Canonical Allele Identifier: CA2659026015
Gene:

Linked Data

gnomAD v4: 2-52722536-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722536A>G , CM000664.2:g.52722536A>G GRCh38
NC_000002.11:g.52949674A>G , CM000664.1:g.52949674A>G GRCh37
NC_000002.10:g.52803178A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.721T>C