Canonical Allele Identifier: CA65737708

Gene:

Linked Data

• dbSNP Id: rs545415339
• gnomAD v3: 2-218216619-C-A
• gnomAD v4: 2-218216619-C-A
• MyVariant Identifiers: chr2:g.219081342C>A (hg19) ; chr2:g.218216619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218216619C>A , CM000664.2:g.218216619C>A	GRCh38
NC_000002.11:g.219081342C>A , CM000664.1:g.219081342C>A	GRCh37
NC_000002.10:g.218789587C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241416.2:n.326G>T
XR_923908.1:n.323G>T