Canonical Allele Identifier: CA764892119

Gene:

Linked Data

• dbSNP Id: rs1431834042
• gnomAD v3: 2-218216575-C-T
• gnomAD v4: 2-218216575-C-T
• MyVariant Identifiers: chr2:g.219081298C>T (hg19) ; chr2:g.218216575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218216575C>T , CM000664.2:g.218216575C>T	GRCh38
NC_000002.11:g.219081298C>T , CM000664.1:g.219081298C>T	GRCh37
NC_000002.10:g.218789543C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241416.2:n.370G>A
XR_923908.1:n.367G>A