Canonical Allele Identifier: CA65737704

Gene:

Linked Data

• dbSNP Id: rs748491464
• gnomAD v3: 2-218216612-T-G
• gnomAD v4: 2-218216612-T-G
• MyVariant Identifiers: chr2:g.219081335T>G (hg19) ; chr2:g.218216612T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218216612T>G , CM000664.2:g.218216612T>G	GRCh38
NC_000002.11:g.219081335T>G , CM000664.1:g.219081335T>G	GRCh37
NC_000002.10:g.218789580T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241416.2:n.333A>C
XR_923908.1:n.330A>C