Canonical Allele Identifier: CA43895666

Gene:

Linked Data

• dbSNP Id: rs1031501588
• gnomAD v2: 2-20685403-G-C
• gnomAD v3: 2-20485642-G-C
• gnomAD v4: 2-20485642-G-C
• MyVariant Identifiers: chr2:g.20685403G>C (hg19) ; chr2:g.20485642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485642G>C , CM000664.2:g.20485642G>C	GRCh38
NC_000002.11:g.20685403G>C , CM000664.1:g.20685403G>C	GRCh37
NC_000002.10:g.20548884G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+3096C>G