Canonical Allele Identifier: CA11309486
Gene:
MyVariant.info:
GRCh38 chr2:g.74712049T>C
GRCh37 chr2:g.74939176T>C
gnomAD v2:
2:74939176 T / C
gnomAD v3:
2:74712049 T / C
gnomAD v4:
chr2-74712049-T-C
Joint Max Group AF 0.79025434 (NFE)
Genomes Max Group AF 0.79025434 (NFE)
dbSNP:
1137
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74712049T>C , CM000664.2:g.74712049T>C GRCh38
NC_000002.11:g.74939176T>C , CM000664.1:g.74939176T>C GRCh37
NC_000002.10:g.74792684T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_427047.4:n.362T>C
Search 100 bp 5'
Search 100 bp 3'