Canonical Allele Identifier: CA16101220
Gene:
COSMIC:
COSN6684207 (not active)
MyVariant.info:
GRCh38 chr2:g.68343640G>C
GRCh37 chr2:g.68570772G>C
gnomAD v2:
2:68570772 G / C
gnomAD v3:
2:68343640 G / C
gnomAD v4:
chr2-68343640-G-C
Joint Max Group AF 0.62705309 (AFR)
Genomes Max Group AF 0.62705309 (AFR)
dbSNP:
9309413
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68343640G>C , CM000664.2:g.68343640G>C GRCh38
NC_000002.11:g.68570772G>C , CM000664.1:g.68570772G>C GRCh37
NC_000002.10:g.68424276G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427045.2:n.4651+853G>C
XR_940224.1:n.292+853G>C
XR_940224.3:n.328+853G>C
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