Canonical Allele Identifier: CA43254725

Gene:

Linked Data

• dbSNP Id: rs930051238
• gnomAD v3: 2-16458154-A-G
• gnomAD v4: 2-16458154-A-G
• MyVariant Identifiers: chr2:g.16639422A>G (hg19) ; chr2:g.16458154A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.16458154A>G , CM000664.2:g.16458154A>G	GRCh38
NC_000002.11:g.16639422A>G , CM000664.1:g.16639422A>G	GRCh37
NC_000002.10:g.16502903A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_939752.1:n.396-3060T>C