Canonical Allele Identifier: CA11195682
Gene:
COSMIC:
COSN6675934 (not active)
MyVariant.info:
GRCh38 chr2:g.118078449C>G
GRCh37 chr2:g.118836025C>G
gnomAD v2:
2:118836025 C / G
gnomAD v3:
2:118078449 C / G
gnomAD v4:
chr2-118078449-C-G
Joint Max Group AF 0.75263262 (AFR)
Genomes Max Group AF 0.75263262 (AFR)
dbSNP:
7566605
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118078449C>G , CM000664.2:g.118078449C>G GRCh38
NC_000002.11:g.118836025C>G , CM000664.1:g.118836025C>G GRCh37
NC_000002.10:g.118552495C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-917G>C XP_011510607.1:n.697-917G>C
XR_001739662.2:n.138+9802G>C
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