Name: rs11449034
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs11449034

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:23513119-23513136 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₉ / del(T)₇ / del(T)₄ / delT…
del(T)₉ / del(T)₇ / del(T)₄ / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.2645 (2497/9440, ALFA)
dupT=0.4842 (2425/5008, 1000G)
(T)₁₈=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: E2F2 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	9440	TTTTTTTTTTTTTTTTTT=0.7345	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.2645, TTTTTTTTTTTTTTTTTTTT=0.0010	0.64269	0.171441	0.185869	32
European	Sub	8058	TTTTTTTTTTTTTTTTTT=0.6899	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.3090, TTTTTTTTTTTTTTTTTTTT=0.0011	0.582297	0.200149	0.217553	32
African	Sub	1050	TTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	52	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	998	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	34	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	138	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	16	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	140	TTTTTTTTTTTTTTTTTT=0.950	TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.050, TTTTTTTTTTTTTTTTTTTT=0.000	0.942857	0.042857	0.014286	27

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9440	(T)₁₈=0.7345	del(T)₉=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.2645, dupTT=0.0010
Allele Frequency Aggregator	European	Sub	8058	(T)₁₈=0.6899	del(T)₉=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.3090, dupTT=0.0011
Allele Frequency Aggregator	African	Sub	1050	(T)₁₈=1.0000	del(T)₉=0.0000, del(T)₇=0.0000, del(T)₄=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Other	Sub	140	(T)₁₈=0.950	del(T)₉=0.000, del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.050, dupTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	138	(T)₁₈=1.000	del(T)₉=0.000, del(T)₇=0.000, del(T)₄=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	34	(T)₁₈=1.00	del(T)₉=0.00, del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(T)₁₈=1.00	del(T)₉=0.00, del(T)₇=0.00, del(T)₄=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Asian	Sub	4	(T)₁₈=1.0	del(T)₉=0.0, del(T)₇=0.0, del(T)₄=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4842
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.3185
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.6498
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.4801
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.561
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.457
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.57

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.23513128_23513136del
GRCh38.p14 chr 1	NC_000001.11:g.23513130_23513136del
GRCh38.p14 chr 1	NC_000001.11:g.23513133_23513136del
GRCh38.p14 chr 1	NC_000001.11:g.23513135_23513136del
GRCh38.p14 chr 1	NC_000001.11:g.23513136del
GRCh38.p14 chr 1	NC_000001.11:g.23513136dup
GRCh38.p14 chr 1	NC_000001.11:g.23513135_23513136dup
GRCh38.p14 chr 1	NC_000001.11:g.23513134_23513136dup
GRCh38.p14 chr 1	NC_000001.11:g.23513133_23513136dup
GRCh38.p14 chr 1	NC_000001.11:g.23513132_23513136dup
GRCh38.p14 chr 1	NC_000001.11:g.23513128_23513136dup
GRCh37.p13 chr 1	NC_000001.10:g.23839620_23839628del
GRCh37.p13 chr 1	NC_000001.10:g.23839622_23839628del
GRCh37.p13 chr 1	NC_000001.10:g.23839625_23839628del
GRCh37.p13 chr 1	NC_000001.10:g.23839627_23839628del
GRCh37.p13 chr 1	NC_000001.10:g.23839628del
GRCh37.p13 chr 1	NC_000001.10:g.23839628dup
GRCh37.p13 chr 1	NC_000001.10:g.23839627_23839628dup
GRCh37.p13 chr 1	NC_000001.10:g.23839626_23839628dup
GRCh37.p13 chr 1	NC_000001.10:g.23839625_23839628dup
GRCh37.p13 chr 1	NC_000001.10:g.23839624_23839628dup
GRCh37.p13 chr 1	NC_000001.10:g.23839620_23839628dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283107_283115del
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283109_283115del
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283112_283115del
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283114_283115del
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283115del
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283115dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283114_283115dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283113_283115dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283112_283115dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283111_283115dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283107_283115dup

Gene: E2F2, E2F transcription factor 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
E2F2 transcript	NM_004091.4:c.1046-2979_1… NM_004091.4:c.1046-2979_1046-2971del	N/A	Intron Variant
E2F2 transcript variant X5	XM_005245748.4:c.482-2979… XM_005245748.4:c.482-2979_482-2971del	N/A	Intron Variant
E2F2 transcript variant X9	XM_005245749.4:c.458-2979… XM_005245749.4:c.458-2979_458-2971del	N/A	Intron Variant
E2F2 transcript variant X1	XM_011540868.4:c.1040-297… XM_011540868.4:c.1040-2979_1040-2971del	N/A	Intron Variant
E2F2 transcript variant X3	XM_011540870.4:c.1045+320… XM_011540870.4:c.1045+3208_1045+3216del	N/A	Intron Variant
E2F2 transcript variant X8	XM_011540871.3:c.458-2979… XM_011540871.3:c.458-2979_458-2971del	N/A	Intron Variant
E2F2 transcript variant X2	XM_047448091.1:c.1046-297… XM_047448091.1:c.1046-2979_1046-2971del	N/A	Intron Variant
E2F2 transcript variant X4	XM_047448092.1:c.1039+320… XM_047448092.1:c.1039+3208_1039+3216del	N/A	Intron Variant
E2F2 transcript variant X6	XM_047448093.1:c.458-2979… XM_047448093.1:c.458-2979_458-2971del	N/A	Intron Variant
E2F2 transcript variant X7	XM_047448094.1:c.458-2979… XM_047448094.1:c.458-2979_458-2971del	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₁₈=	del(T)₉	del(T)₇	del(T)₄	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₉
GRCh38.p14 chr 1	NC_000001.11:g.23513119_23513136=	NC_000001.11:g.23513128_23513136del	NC_000001.11:g.23513130_23513136del	NC_000001.11:g.23513133_23513136del	NC_000001.11:g.23513135_23513136del	NC_000001.11:g.23513136del	NC_000001.11:g.23513136dup	NC_000001.11:g.23513135_23513136dup	NC_000001.11:g.23513134_23513136dup	NC_000001.11:g.23513133_23513136dup	NC_000001.11:g.23513132_23513136dup	NC_000001.11:g.23513128_23513136dup
GRCh37.p13 chr 1	NC_000001.10:g.23839611_23839628=	NC_000001.10:g.23839620_23839628del	NC_000001.10:g.23839622_23839628del	NC_000001.10:g.23839625_23839628del	NC_000001.10:g.23839627_23839628del	NC_000001.10:g.23839628del	NC_000001.10:g.23839628dup	NC_000001.10:g.23839627_23839628dup	NC_000001.10:g.23839626_23839628dup	NC_000001.10:g.23839625_23839628dup	NC_000001.10:g.23839624_23839628dup	NC_000001.10:g.23839620_23839628dup
GRCh38.p14 chr 1 novel patch HSCHR1_4_CTG3	NW_014040926.1:g.283098_283115=	NW_014040926.1:g.283107_283115del	NW_014040926.1:g.283109_283115del	NW_014040926.1:g.283112_283115del	NW_014040926.1:g.283114_283115del	NW_014040926.1:g.283115del	NW_014040926.1:g.283115dup	NW_014040926.1:g.283114_283115dup	NW_014040926.1:g.283113_283115dup	NW_014040926.1:g.283112_283115dup	NW_014040926.1:g.283111_283115dup	NW_014040926.1:g.283107_283115dup
E2F2 transcript	NM_004091.3:c.1046-2971=	NM_004091.3:c.1046-2979_1046-2971del	NM_004091.3:c.1046-2977_1046-2971del	NM_004091.3:c.1046-2974_1046-2971del	NM_004091.3:c.1046-2972_1046-2971del	NM_004091.3:c.1046-2971del	NM_004091.3:c.1046-2971dup	NM_004091.3:c.1046-2972_1046-2971dup	NM_004091.3:c.1046-2973_1046-2971dup	NM_004091.3:c.1046-2974_1046-2971dup	NM_004091.3:c.1046-2975_1046-2971dup	NM_004091.3:c.1046-2979_1046-2971dup
E2F2 transcript	NM_004091.4:c.1046-2971=	NM_004091.4:c.1046-2979_1046-2971del	NM_004091.4:c.1046-2977_1046-2971del	NM_004091.4:c.1046-2974_1046-2971del	NM_004091.4:c.1046-2972_1046-2971del	NM_004091.4:c.1046-2971del	NM_004091.4:c.1046-2971dup	NM_004091.4:c.1046-2972_1046-2971dup	NM_004091.4:c.1046-2973_1046-2971dup	NM_004091.4:c.1046-2974_1046-2971dup	NM_004091.4:c.1046-2975_1046-2971dup	NM_004091.4:c.1046-2979_1046-2971dup
E2F2 transcript variant X1	XM_005245748.1:c.482-2971=	XM_005245748.1:c.482-2979_482-2971del	XM_005245748.1:c.482-2977_482-2971del	XM_005245748.1:c.482-2974_482-2971del	XM_005245748.1:c.482-2972_482-2971del	XM_005245748.1:c.482-2971del	XM_005245748.1:c.482-2971dup	XM_005245748.1:c.482-2972_482-2971dup	XM_005245748.1:c.482-2973_482-2971dup	XM_005245748.1:c.482-2974_482-2971dup	XM_005245748.1:c.482-2975_482-2971dup	XM_005245748.1:c.482-2979_482-2971dup
E2F2 transcript variant X5	XM_005245748.4:c.482-2971=	XM_005245748.4:c.482-2979_482-2971del	XM_005245748.4:c.482-2977_482-2971del	XM_005245748.4:c.482-2974_482-2971del	XM_005245748.4:c.482-2972_482-2971del	XM_005245748.4:c.482-2971del	XM_005245748.4:c.482-2971dup	XM_005245748.4:c.482-2972_482-2971dup	XM_005245748.4:c.482-2973_482-2971dup	XM_005245748.4:c.482-2974_482-2971dup	XM_005245748.4:c.482-2975_482-2971dup	XM_005245748.4:c.482-2979_482-2971dup
E2F2 transcript variant X2	XM_005245749.1:c.458-2971=	XM_005245749.1:c.458-2979_458-2971del	XM_005245749.1:c.458-2977_458-2971del	XM_005245749.1:c.458-2974_458-2971del	XM_005245749.1:c.458-2972_458-2971del	XM_005245749.1:c.458-2971del	XM_005245749.1:c.458-2971dup	XM_005245749.1:c.458-2972_458-2971dup	XM_005245749.1:c.458-2973_458-2971dup	XM_005245749.1:c.458-2974_458-2971dup	XM_005245749.1:c.458-2975_458-2971dup	XM_005245749.1:c.458-2979_458-2971dup
E2F2 transcript variant X9	XM_005245749.4:c.458-2971=	XM_005245749.4:c.458-2979_458-2971del	XM_005245749.4:c.458-2977_458-2971del	XM_005245749.4:c.458-2974_458-2971del	XM_005245749.4:c.458-2972_458-2971del	XM_005245749.4:c.458-2971del	XM_005245749.4:c.458-2971dup	XM_005245749.4:c.458-2972_458-2971dup	XM_005245749.4:c.458-2973_458-2971dup	XM_005245749.4:c.458-2974_458-2971dup	XM_005245749.4:c.458-2975_458-2971dup	XM_005245749.4:c.458-2979_458-2971dup
E2F2 transcript variant X1	XM_011540868.4:c.1040-2971=	XM_011540868.4:c.1040-2979_1040-2971del	XM_011540868.4:c.1040-2977_1040-2971del	XM_011540868.4:c.1040-2974_1040-2971del	XM_011540868.4:c.1040-2972_1040-2971del	XM_011540868.4:c.1040-2971del	XM_011540868.4:c.1040-2971dup	XM_011540868.4:c.1040-2972_1040-2971dup	XM_011540868.4:c.1040-2973_1040-2971dup	XM_011540868.4:c.1040-2974_1040-2971dup	XM_011540868.4:c.1040-2975_1040-2971dup	XM_011540868.4:c.1040-2979_1040-2971dup
E2F2 transcript variant X3	XM_011540870.4:c.1045+3216=	XM_011540870.4:c.1045+3208_1045+3216del	XM_011540870.4:c.1045+3210_1045+3216del	XM_011540870.4:c.1045+3213_1045+3216del	XM_011540870.4:c.1045+3215_1045+3216del	XM_011540870.4:c.1045+3216del	XM_011540870.4:c.1045+3216dup	XM_011540870.4:c.1045+3215_1045+3216dup	XM_011540870.4:c.1045+3214_1045+3216dup	XM_011540870.4:c.1045+3213_1045+3216dup	XM_011540870.4:c.1045+3212_1045+3216dup	XM_011540870.4:c.1045+3208_1045+3216dup
E2F2 transcript variant X8	XM_011540871.3:c.458-2971=	XM_011540871.3:c.458-2979_458-2971del	XM_011540871.3:c.458-2977_458-2971del	XM_011540871.3:c.458-2974_458-2971del	XM_011540871.3:c.458-2972_458-2971del	XM_011540871.3:c.458-2971del	XM_011540871.3:c.458-2971dup	XM_011540871.3:c.458-2972_458-2971dup	XM_011540871.3:c.458-2973_458-2971dup	XM_011540871.3:c.458-2974_458-2971dup	XM_011540871.3:c.458-2975_458-2971dup	XM_011540871.3:c.458-2979_458-2971dup
E2F2 transcript variant X2	XM_047448091.1:c.1046-2971=	XM_047448091.1:c.1046-2979_1046-2971del	XM_047448091.1:c.1046-2977_1046-2971del	XM_047448091.1:c.1046-2974_1046-2971del	XM_047448091.1:c.1046-2972_1046-2971del	XM_047448091.1:c.1046-2971del	XM_047448091.1:c.1046-2971dup	XM_047448091.1:c.1046-2972_1046-2971dup	XM_047448091.1:c.1046-2973_1046-2971dup	XM_047448091.1:c.1046-2974_1046-2971dup	XM_047448091.1:c.1046-2975_1046-2971dup	XM_047448091.1:c.1046-2979_1046-2971dup
E2F2 transcript variant X4	XM_047448092.1:c.1039+3216=	XM_047448092.1:c.1039+3208_1039+3216del	XM_047448092.1:c.1039+3210_1039+3216del	XM_047448092.1:c.1039+3213_1039+3216del	XM_047448092.1:c.1039+3215_1039+3216del	XM_047448092.1:c.1039+3216del	XM_047448092.1:c.1039+3216dup	XM_047448092.1:c.1039+3215_1039+3216dup	XM_047448092.1:c.1039+3214_1039+3216dup	XM_047448092.1:c.1039+3213_1039+3216dup	XM_047448092.1:c.1039+3212_1039+3216dup	XM_047448092.1:c.1039+3208_1039+3216dup
E2F2 transcript variant X6	XM_047448093.1:c.458-2971=	XM_047448093.1:c.458-2979_458-2971del	XM_047448093.1:c.458-2977_458-2971del	XM_047448093.1:c.458-2974_458-2971del	XM_047448093.1:c.458-2972_458-2971del	XM_047448093.1:c.458-2971del	XM_047448093.1:c.458-2971dup	XM_047448093.1:c.458-2972_458-2971dup	XM_047448093.1:c.458-2973_458-2971dup	XM_047448093.1:c.458-2974_458-2971dup	XM_047448093.1:c.458-2975_458-2971dup	XM_047448093.1:c.458-2979_458-2971dup
E2F2 transcript variant X7	XM_047448094.1:c.458-2971=	XM_047448094.1:c.458-2979_458-2971del	XM_047448094.1:c.458-2977_458-2971del	XM_047448094.1:c.458-2974_458-2971del	XM_047448094.1:c.458-2972_458-2971del	XM_047448094.1:c.458-2971del	XM_047448094.1:c.458-2971dup	XM_047448094.1:c.458-2972_458-2971dup	XM_047448094.1:c.458-2973_458-2971dup	XM_047448094.1:c.458-2974_458-2971dup	XM_047448094.1:c.458-2975_458-2971dup	XM_047448094.1:c.458-2979_458-2971dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

52 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79982975	Dec 03, 2013 (138)
2	HGSV	ss81549605	Dec 04, 2013 (138)
3	PJP	ss294570026	May 09, 2011 (135)
4	SSMP	ss663170320	Apr 01, 2015 (144)
5	BILGI_BIOE	ss666085469	Apr 25, 2013 (138)
6	SSIP	ss947015466	Aug 21, 2014 (142)
7	1000GENOMES	ss1367673038	Aug 21, 2014 (142)
8	EVA_GENOME_DK	ss1573902019	Apr 01, 2015 (144)
9	SWEGEN	ss2986468064	Nov 08, 2017 (151)
10	MCHAISSO	ss3063580685	Nov 08, 2017 (151)
11	MCHAISSO	ss3064393753	Nov 08, 2017 (151)
12	EVA_DECODE	ss3686348399	Jul 12, 2019 (153)
13	EVA_DECODE	ss3686348400	Jul 12, 2019 (153)
14	EVA_DECODE	ss3686348401	Jul 12, 2019 (153)
15	EVA_DECODE	ss3686348402	Jul 12, 2019 (153)
16	PACBIO	ss3783353685	Jul 12, 2019 (153)
17	PACBIO	ss3789023198	Jul 12, 2019 (153)
18	PACBIO	ss3793895700	Jul 12, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3798961790	Jul 12, 2019 (153)
20	EVA	ss3826071905	Apr 25, 2020 (154)
21	EVA	ss3836423828	Apr 25, 2020 (154)
22	EVA	ss3841828509	Apr 25, 2020 (154)
23	KOGIC	ss3944037189	Apr 25, 2020 (154)
24	KOGIC	ss3944037190	Apr 25, 2020 (154)
25	KOGIC	ss3944037191	Apr 25, 2020 (154)
26	KOGIC	ss3944037192	Apr 25, 2020 (154)
27	GNOMAD	ss3989852186	Apr 25, 2021 (155)
28	GNOMAD	ss3989852187	Apr 25, 2021 (155)
29	GNOMAD	ss3989852188	Apr 25, 2021 (155)
30	GNOMAD	ss3989852189	Apr 25, 2021 (155)
31	GNOMAD	ss3989852190	Apr 25, 2021 (155)
32	GNOMAD	ss3989852192	Apr 25, 2021 (155)
33	GNOMAD	ss3989852193	Apr 25, 2021 (155)
34	GNOMAD	ss3989852194	Apr 25, 2021 (155)
35	GNOMAD	ss3989852195	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5142935319	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5142935320	Apr 25, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5241512567	Oct 17, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5241512568	Oct 17, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5241512569	Oct 17, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5241512570	Oct 17, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5241512571	Oct 17, 2022 (156)
43	HUGCELL_USP	ss5442661882	Oct 17, 2022 (156)
44	HUGCELL_USP	ss5442661883	Oct 17, 2022 (156)
45	TOMMO_GENOMICS	ss5667374673	Oct 17, 2022 (156)
46	TOMMO_GENOMICS	ss5667374674	Oct 17, 2022 (156)
47	TOMMO_GENOMICS	ss5667374675	Oct 17, 2022 (156)
48	YY_MCH	ss5800413314	Oct 17, 2022 (156)
49	EVA	ss5831670965	Oct 17, 2022 (156)
50	EVA	ss5831670966	Oct 17, 2022 (156)
51	EVA	ss5848823149	Oct 17, 2022 (156)
52	EVA	ss5907400541	Oct 17, 2022 (156)
53	1000Genomes	NC_000001.10 - 23839611	Oct 11, 2018 (152)
54	The Danish reference pan genome	NC_000001.10 - 23839611	Apr 25, 2020 (154)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 5075447 (NC_000001.11:23513118::T 66580/128450) Row 5075448 (NC_000001.11:23513118::TT 297/128366) Row 5075449 (NC_000001.11:23513118::TTT 10/128414)...	-	Apr 25, 2021 (155)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 415190 (NC_000001.11:23513119::T 1169/1830) Row 415191 (NC_000001.11:23513119::TT 180/1830) Row 415192 (NC_000001.11:23513118:T: 13/1830)...	-	Apr 25, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 415190 (NC_000001.11:23513119::T 1169/1830) Row 415191 (NC_000001.11:23513119::TT 180/1830) Row 415192 (NC_000001.11:23513118:T: 13/1830)...	-	Apr 25, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 415190 (NC_000001.11:23513119::T 1169/1830) Row 415191 (NC_000001.11:23513119::TT 180/1830) Row 415192 (NC_000001.11:23513118:T: 13/1830)...	-	Apr 25, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 415190 (NC_000001.11:23513119::T 1169/1830) Row 415191 (NC_000001.11:23513119::TT 180/1830) Row 415192 (NC_000001.11:23513118:T: 13/1830)...	-	Apr 25, 2020 (154)
68	8.3KJPN Submission ignored due to conflicting rows: Row 904626 (NC_000001.10:23839610::T 13600/16720) Row 904627 (NC_000001.10:23839610::TT 67/16720)	-	Apr 25, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 904626 (NC_000001.10:23839610::T 13600/16720) Row 904627 (NC_000001.10:23839610::TT 67/16720)	-	Apr 25, 2021 (155)
70	14KJPN Submission ignored due to conflicting rows: Row 1211777 (NC_000001.11:23513118::T 23016/28242) Row 1211778 (NC_000001.11:23513118::TT 129/28242) Row 1211779 (NC_000001.11:23513118:T: 2/28242)	-	Oct 17, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 1211777 (NC_000001.11:23513118::T 23016/28242) Row 1211778 (NC_000001.11:23513118::TT 129/28242) Row 1211779 (NC_000001.11:23513118:T: 2/28242)	-	Oct 17, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 1211777 (NC_000001.11:23513118::T 23016/28242) Row 1211778 (NC_000001.11:23513118::TT 129/28242) Row 1211779 (NC_000001.11:23513118:T: 2/28242)	-	Oct 17, 2022 (156)
73	ALFA	NC_000001.11 - 23513119	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs33983506	May 11, 2012 (137)
rs61152406	May 24, 2008 (130)
rs144974109	Sep 17, 2011 (135)
rs368254025	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3989852195	NC_000001.11:23513118:TTTTTTTTT:	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss3989852194, ss5241512569	NC_000001.11:23513118:TTTTTTT:	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3989852193	NC_000001.11:23513118:TT:	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss2986468064	NC_000001.10:23839610:T:	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3686348399, ss3944037191, ss3989852192, ss5241512570, ss5442661882, ss5667374675	NC_000001.11:23513118:T:	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss294570026	NC_000001.9:23712215::T	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
729414, 129611, ss663170320, ss666085469, ss1367673038, ss1573902019, ss3783353685, ss3789023198, ss3793895700, ss3826071905, ss3836423828, ss5142935319, ss5831670965	NC_000001.10:23839610::T	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss947015466	NC_000001.10:23839611::T	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3063580685, ss3064393753, ss3798961790, ss3841828509, ss3989852186, ss5241512567, ss5442661883, ss5667374673, ss5800413314, ss5848823149, ss5907400541	NC_000001.11:23513118::T	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3686348400, ss3944037189	NC_000001.11:23513119::T	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss79982975, ss81549605	NT_004610.19:10519716::T	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5142935320, ss5831670966	NC_000001.10:23839610::TT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3989852187, ss5241512568, ss5667374674	NC_000001.11:23513118::TT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
2583812059	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3686348401, ss3944037190	NC_000001.11:23513119::TT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3989852188	NC_000001.11:23513118::TTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3944037192	NC_000001.11:23513119::TTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3989852189	NC_000001.11:23513118::TTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3989852190, ss5241512571	NC_000001.11:23513118::TTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3686348402	NC_000001.11:23513119::TTTTTTTTT	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3070957080	NC_000001.11:23513118:TTTT:	NC_000001.11:23513118:TTTTTTTTTTTT… NC_000001.11:23513118:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs11449034

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11449034