Canonical Allele Identifier: CA11321809
Gene:
COSMIC:
COSN6675937 (not active)
MyVariant.info:
GRCh38 chr2:g.118080834A>C
GRCh37 chr2:g.118838410A>C
gnomAD v2:
2:118838410 A / C
gnomAD v3:
2:118080834 A / C
gnomAD v4:
chr2-118080834-A-C
Joint Max Group AF 0.10090145 (AMR)
Genomes Max Group AF 0.10090145 (AMR)
dbSNP:
17587100
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118080834A>C , CM000664.2:g.118080834A>C GRCh38
NC_000002.11:g.118838410A>C , CM000664.1:g.118838410A>C GRCh37
NC_000002.10:g.118554880A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-3302T>G XP_011510607.1:n.697-3302T>G
XR_001739662.2:n.138+7417T>G
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