Canonical Allele Identifier: CA763641418

Gene:

Linked Data

• dbSNP Id: rs1377007208
• gnomAD v3: 2-20485810-G-A
• gnomAD v4: 2-20485810-G-A
• MyVariant Identifiers: chr2:g.20685571G>A (hg19) ; chr2:g.20485810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485810G>A , CM000664.2:g.20485810G>A	GRCh38
NC_000002.11:g.20685571G>A , CM000664.1:g.20685571G>A	GRCh37
NC_000002.10:g.20549052G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+2928C>T