SNP Links for Protein (Select 426214088) - SNP

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 15:76941651 (GRCh38)
15:77233993 (GRCh37)
Canonical SPDI:: NC_000015.10:76941651:AAAAAA:AAAAAAA
Gene:: RCN2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.76941657dup, NC_000015.9:g.77233998dup, NM_001271837.2:c.468dup, NM_001271837.1:c.468dup, NP_001258766.1:p.Gln157fs

Select item 14797312177.

rs1479731217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:76935583 (GRCh38)
15:77227924 (GRCh37)
Canonical SPDI:: NC_000015.10:76935582:A:C
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.76935583A>C, NC_000015.9:g.77227924A>C, NM_002902.3:c.308A>C, NM_002902.2:c.308A>C, NM_001271837.2:c.308A>C, NM_001271837.1:c.308A>C, NP_002893.1:p.Lys103Thr, NP_001258766.1:p.Lys103Thr

Select item 14793651138.

rs1479365113 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:76948519 (GRCh38)
15:77240860 (GRCh37)
Canonical SPDI:: NC_000015.10:76948518:A:G
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.76948519A>G, NC_000015.9:g.77240860A>G, NM_002902.3:c.768A>G, NM_002902.2:c.768A>G, NM_001271837.2:c.822A>G, NM_001271837.1:c.822A>G

Select item 14786112429.

rs1478611242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:76947478 (GRCh38)
15:77239819 (GRCh37)
Canonical SPDI:: NC_000015.10:76947477:A:G
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.76947478A>G, NC_000015.9:g.77239819A>G, NM_002902.3:c.619A>G, NM_002902.2:c.619A>G, NM_001271837.2:c.673A>G, NM_001271837.1:c.673A>G, NP_002893.1:p.Ser207Gly, NP_001258766.1:p.Ser225Gly

Select item 147812892510.

rs1478128925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:76948536 (GRCh38)
15:77240877 (GRCh37)
Canonical SPDI:: NC_000015.10:76948535:G:A
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.76948536G>A, NC_000015.9:g.77240877G>A, NM_002902.3:c.785G>A, NM_002902.2:c.785G>A, NM_001271837.2:c.839G>A, NM_001271837.1:c.839G>A, NP_002893.1:p.Gly262Asp, NP_001258766.1:p.Gly280Asp

Select item 147690800011.

rs1476908000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:76931907 (GRCh38)
15:77224248 (GRCh37)
Canonical SPDI:: NC_000015.10:76931906:C:G
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.00003/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.76931907C>G, NC_000015.9:g.77224248C>G, NM_002902.3:c.66C>G, NM_002902.2:c.66C>G, NM_001271837.2:c.66C>G, NM_001271837.1:c.66C>G

Select item 147612436112.

rs1476124361 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:76941658 (GRCh38)
15:77233999 (GRCh37)
Canonical SPDI:: NC_000015.10:76941656:ACA:A
Gene:: RCN2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD_exomes)
-=0.00003/8 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000015.10:g.76941658_76941659del, NC_000015.9:g.77233999_77234000del, NM_001271837.2:c.469_470del, NM_001271837.1:c.469_470del, NP_001258766.1:p.Gln157fs

Select item 147494614713.

rs1474946147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:76941646 (GRCh38)
15:77233987 (GRCh37)
Canonical SPDI:: NC_000015.10:76941645:A:G
Gene:: RCN2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.76941646A>G, NC_000015.9:g.77233987A>G, NM_001271837.2:c.457A>G, NM_001271837.1:c.457A>G, NP_001258766.1:p.Ile153Val

Select item 147067854214.

rs1470678542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:76948531 (GRCh38)
15:77240872 (GRCh37)
Canonical SPDI:: NC_000015.10:76948530:T:A
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.76948531T>A, NC_000015.9:g.77240872T>A, NM_002902.3:c.780T>A, NM_002902.2:c.780T>A, NM_001271837.2:c.834T>A, NM_001271837.1:c.834T>A, NP_002893.1:p.Asn260Lys, NP_001258766.1:p.Asn278Lys

Select item 147065964015.

rs1470659640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:76949210 (GRCh38)
15:77241551 (GRCh37)
Canonical SPDI:: NC_000015.10:76949209:T:C
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.76949210T>C, NC_000015.9:g.77241551T>C, NM_002902.3:c.942T>C, NM_002902.2:c.942T>C, NM_001271837.2:c.996T>C, NM_001271837.1:c.996T>C

Select item 146878662816.

rs1468786628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:76947425 (GRCh38)
15:77239766 (GRCh37)
Canonical SPDI:: NC_000015.10:76947424:T:C
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.76947425T>C, NC_000015.9:g.77239766T>C, NM_002902.3:c.566T>C, NM_002902.2:c.566T>C, NM_001271837.2:c.620T>C, NM_001271837.1:c.620T>C, NP_002893.1:p.Phe189Ser, NP_001258766.1:p.Phe207Ser

Select item 146837703317.

rs1468377033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:76948433 (GRCh38)
15:77240774 (GRCh37)
Canonical SPDI:: NC_000015.10:76948432:A:G,NC_000015.10:76948432:A:T
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.76948433A>G, NC_000015.10:g.76948433A>T, NC_000015.9:g.77240774A>G, NC_000015.9:g.77240774A>T, NM_002902.3:c.682A>G, NM_002902.3:c.682A>T, NM_002902.2:c.682A>G, NM_002902.2:c.682A>T, NM_001271837.2:c.736A>G, NM_001271837.2:c.736A>T, NM_001271837.1:c.736A>G, NM_001271837.1:c.736A>T, NP_002893.1:p.Ile228Val, NP_002893.1:p.Ile228Leu, NP_001258766.1:p.Ile246Val, NP_001258766.1:p.Ile246Leu

Select item 146673207218.

rs1466732072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:76949070 (GRCh38)
15:77241411 (GRCh37)
Canonical SPDI:: NC_000015.10:76949069:G:T
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.76949070G>T, NC_000015.9:g.77241411G>T, NM_002902.3:c.802G>T, NM_002902.2:c.802G>T, NM_001271837.2:c.856G>T, NM_001271837.1:c.856G>T, NP_002893.1:p.Ala268Ser, NP_001258766.1:p.Ala286Ser

Select item 146052230219.

rs1460522302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:76948545 (GRCh38)
15:77240886 (GRCh37)
Canonical SPDI:: NC_000015.10:76948544:A:C,NC_000015.10:76948544:A:G,NC_000015.10:76948544:A:T
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.76948545A>C, NC_000015.10:g.76948545A>G, NC_000015.10:g.76948545A>T, NC_000015.9:g.77240886A>C, NC_000015.9:g.77240886A>G, NC_000015.9:g.77240886A>T, NM_002902.3:c.794A>C, NM_002902.3:c.794A>G, NM_002902.3:c.794A>T, NM_002902.2:c.794A>C, NM_002902.2:c.794A>G, NM_002902.2:c.794A>T, NM_001271837.2:c.848A>C, NM_001271837.2:c.848A>G, NM_001271837.2:c.848A>T, NM_001271837.1:c.848A>C, NM_001271837.1:c.848A>G, NM_001271837.1:c.848A>T, NP_002893.1:p.Gln265Pro, NP_002893.1:p.Gln265Arg, NP_002893.1:p.Gln265Leu, NP_001258766.1:p.Gln283Pro, NP_001258766.1:p.Gln283Arg, NP_001258766.1:p.Gln283Leu

Select item 144816198020.

rs1448161980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:76943856 (GRCh38)
15:77236197 (GRCh37)
Canonical SPDI:: NC_000015.10:76943855:A:G
Gene:: RCN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000015.10:g.76943856A>G, NC_000015.9:g.77236197A>G, NM_002902.3:c.546A>G, NM_002902.2:c.546A>G, NM_001271837.2:c.600A>G, NM_001271837.1:c.600A>G