Canonical Allele Identifier: CA16095001
Gene:
COSMIC:
COSN8868166 (not active)
COSN15303400 (not active)
COSN19692848 (not active)
MyVariant.info:
GRCh38 chr2:g.37817201C>T
GRCh37 chr2:g.38044344C>T
gnomAD v2:
2:38044344 C / T
gnomAD v3:
2:37817201 C / T
gnomAD v4:
chr2-37817201-C-T
Joint Max Group AF 0.32836064 (AMR)
Genomes Max Group AF 0.31047826 (NFE)
Exomes Max Group AF 0.33533124 (AMR)
dbSNP:
4670779
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37817201C>T , CM000664.2:g.37817201C>T GRCh38
NC_000002.11:g.38044344C>T , CM000664.1:g.38044344C>T GRCh37
NC_000002.10:g.37897848C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000456500.1:n.287C>T
Search 100 bp 5'
Search 100 bp 3'