SNP Links for Protein (Select 119395727) - SNP

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Links from Protein

Items: 1 to 20 of 431

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Select item 14877616101.

rs1487761610 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:115727023 (GRCh38)
1:116269644 (GRCh37)
Canonical SPDI:: NC_000001.11:115727022:C:A,NC_000001.11:115727022:C:T
Gene:: CASQ2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.115727023C>A, NC_000001.11:g.115727023C>T, NC_000001.10:g.116269644C>A, NC_000001.10:g.116269644C>T, NG_008802.1:g.46783G>T, NG_008802.1:g.46783G>A, NM_001232.4:c.706G>T, NM_001232.4:c.706G>A, NM_001232.3:c.706G>T, NM_001232.3:c.706G>A, NP_001223.2:p.Glu236Ter, NP_001223.2:p.Glu236Lys

Select item 14841651372.

rs1484165137 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115727015 (GRCh38)
1:116269636 (GRCh37)
Canonical SPDI:: NC_000001.11:115727014:C:T
Gene:: CASQ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115727015C>T, NC_000001.10:g.116269636C>T, NG_008802.1:g.46791G>A, NM_001232.4:c.714G>A, NM_001232.3:c.714G>A

Select item 14824979153.

rs1482497915 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:115717882 (GRCh38)
1:116260503 (GRCh37)
Canonical SPDI:: NC_000001.11:115717881:T:C
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115717882T>C, NC_000001.10:g.116260503T>C, NG_008802.1:g.55924A>G, NM_001232.4:c.796A>G, NM_001232.3:c.796A>G, NP_001223.2:p.Asn266Asp

Select item 14818522044.

rs1481852204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:115740807 (GRCh38)
1:116283428 (GRCh37)
Canonical SPDI:: NC_000001.11:115740806:A:C
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115740807A>C, NC_000001.10:g.116283428A>C, NG_008802.1:g.32999T>G, NM_001232.4:c.341T>G, NM_001232.3:c.341T>G, NP_001223.2:p.Leu114Arg

Select item 14744091385.

rs1474409138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115701301 (GRCh38)
1:116243922 (GRCh37)
Canonical SPDI:: NC_000001.11:115701300:A:G
Gene:: CASQ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/1 (ExAC)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115701301A>G, NC_000001.10:g.116243922A>G, NG_008802.1:g.72505T>C, NM_001232.4:c.1140T>C, NM_001232.3:c.1140T>C

Select item 14737095656.

rs1473709565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115702989 (GRCh38)
1:116245610 (GRCh37)
Canonical SPDI:: NC_000001.11:115702988:C:T
Gene:: CASQ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115702989C>T, NC_000001.10:g.116245610C>T, NG_008802.1:g.70817G>A, NM_001232.4:c.946G>A, NM_001232.3:c.946G>A, NP_001223.2:p.Ala316Thr

Select item 14725571027.

rs1472557102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:115744860 (GRCh38)
1:116287481 (GRCh37)
Canonical SPDI:: NC_000001.11:115744859:G:C
Gene:: CASQ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.115744860G>C, NC_000001.10:g.116287481G>C, NG_008802.1:g.28946C>G, NM_001232.4:c.287C>G, NM_001232.3:c.287C>G, NP_001223.2:p.Ala96Gly

Select item 14715763688.

rs1471576368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:115705275 (GRCh38)
1:116247896 (GRCh37)
Canonical SPDI:: NC_000001.11:115705274:C:A
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115705275C>A, NC_000001.10:g.116247896C>A, NG_008802.1:g.68531G>T, NM_001232.4:c.856G>T, NM_001232.3:c.856G>T, NP_001223.2:p.Glu286Ter

Select item 14685282469.

rs1468528246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:115744898 (GRCh38)
1:116287519 (GRCh37)
Canonical SPDI:: NC_000001.11:115744897:G:A,NC_000001.11:115744897:G:C
Gene:: CASQ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.115744898G>A, NC_000001.11:g.115744898G>C, NC_000001.10:g.116287519G>A, NC_000001.10:g.116287519G>C, NG_008802.1:g.28908C>T, NG_008802.1:g.28908C>G, NM_001232.4:c.249C>T, NM_001232.4:c.249C>G, NM_001232.3:c.249C>T, NM_001232.3:c.249C>G

Select item 146747035910.

rs1467470359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115701282 (GRCh38)
1:116243903 (GRCh37)
Canonical SPDI:: NC_000001.11:115701281:C:T
Gene:: CASQ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115701282C>T, NC_000001.10:g.116243903C>T, NG_008802.1:g.72524G>A, NM_001232.4:c.1159G>A, NM_001232.3:c.1159G>A, NP_001223.2:p.Glu387Lys

Select item 146484468811.

rs1464844688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115727092 (GRCh38)
1:116269713 (GRCh37)
Canonical SPDI:: NC_000001.11:115727091:C:T
Gene:: CASQ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115727092C>T, NC_000001.10:g.116269713C>T, NG_008802.1:g.46714G>A, NM_001232.4:c.637G>A, NM_001232.3:c.637G>A, NP_001223.2:p.Glu213Lys

Select item 146139687712.

rs1461396877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115768486 (GRCh38)
1:116311107 (GRCh37)
Canonical SPDI:: NC_000001.11:115768485:G:A
Gene:: CASQ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115768486G>A, NC_000001.10:g.116311107G>A, NG_008802.1:g.5320C>T, NM_001232.4:c.56C>T, NM_001232.3:c.56C>T, NP_001223.2:p.Ala19Val

Select item 145872360813.

rs1458723608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:115725548 (GRCh38)
1:116268169 (GRCh37)
Canonical SPDI:: NC_000001.11:115725547:G:A
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.115725548G>A, NC_000001.10:g.116268169G>A, NG_008802.1:g.48258C>T, NM_001232.4:c.743C>T, NM_001232.3:c.743C>T, NP_001223.2:p.Thr248Ile

Select item 145869278614.

rs1458692786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:115744828 (GRCh38)
1:116287449 (GRCh37)
Canonical SPDI:: NC_000001.11:115744827:C:T
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.115744828C>T, NC_000001.10:g.116287449C>T, NG_008802.1:g.28978G>A, NM_001232.4:c.319G>A, NM_001232.3:c.319G>A, NP_001223.2:p.Gly107Ser

Select item 145770623015.

rs1457706230 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115738266 (GRCh38)
1:116280887 (GRCh37)
Canonical SPDI:: NC_000001.11:115738265:A:G
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115738266A>G, NC_000001.10:g.116280887A>G, NG_008802.1:g.35540T>C, NM_001232.4:c.490T>C, NM_001232.3:c.490T>C, NP_001223.2:p.Tyr164His

Select item 145566783916.

rs1455667839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:115768463 (GRCh38)
1:116311084 (GRCh37)
Canonical SPDI:: NC_000001.11:115768462:T:C
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115768463T>C, NC_000001.10:g.116311084T>C, NG_008802.1:g.5343A>G, NM_001232.4:c.79A>G, NM_001232.3:c.79A>G, NP_001223.2:p.Thr27Ala

Select item 145242677417.

rs1452426774 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:115725511 (GRCh38)
1:116268132 (GRCh37)
Canonical SPDI:: NC_000001.11:115725510:T:A,NC_000001.11:115725510:T:C
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.115725511T>A, NC_000001.11:g.115725511T>C, NC_000001.10:g.116268132T>A, NC_000001.10:g.116268132T>C, NG_008802.1:g.48295A>T, NG_008802.1:g.48295A>G, NM_001232.4:c.780A>T, NM_001232.4:c.780A>G, NM_001232.3:c.780A>T, NM_001232.3:c.780A>G

Select item 145032750818.

rs1450327508 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATC>- [Show Flanks]
Chromosome:: 1:115701397 (GRCh38)
1:116244018 (GRCh37)
Canonical SPDI:: NC_000001.11:115701391:TCATCATC:TCATC
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa
MAF:: TCATC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.115701394ATC[1], NC_000001.10:g.116244015ATC[1], NG_008802.1:g.72409TGA[1], NM_001232.4:c.1044TGA[1], NM_001232.3:c.1044TGA[1], NP_001223.2:p.Asp351del

Select item 144778210619.

rs1447782106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:115738261 (GRCh38)
1:116280882 (GRCh37)
Canonical SPDI:: NC_000001.11:115738260:G:A,NC_000001.11:115738260:G:T
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.115738261G>A, NC_000001.11:g.115738261G>T, NC_000001.10:g.116280882G>A, NC_000001.10:g.116280882G>T, NG_008802.1:g.35545C>T, NG_008802.1:g.35545C>A, NM_001232.4:c.495C>T, NM_001232.4:c.495C>A, NM_001232.3:c.495C>T, NM_001232.3:c.495C>A

Select item 144679284820.

rs1446792848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:115768417 (GRCh38)
1:116311038 (GRCh37)
Canonical SPDI:: NC_000001.11:115768416:A:G
Gene:: CASQ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.115768417A>G, NC_000001.10:g.116311038A>G, NG_008802.1:g.5389T>C, NM_001232.4:c.125T>C, NM_001232.3:c.125T>C, NP_001223.2:p.Phe42Ser

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