Canonical Allele Identifier: CA535784173

Gene:

Linked Data

• dbSNP Id: rs1919922
• gnomAD v2: 2-123136890-C-G
• MyVariant Identifiers: chr2:g.123136890C>G (hg19) ; chr2:g.122379314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122379314C>G , CM000664.2:g.122379314C>G	GRCh38
NC_000002.11:g.123136890C>G , CM000664.1:g.123136890C>G	GRCh37
NC_000002.10:g.122853360C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_923278.1:n.556-13649C>G
XR_001739684.1:n.556-13649C>G