Canonical Allele Identifier: CA47693347

Gene:

Linked Data

• dbSNP Id: rs559866536
• gnomAD v2: 2-52949560-A-G
• gnomAD v3: 2-52722422-A-G
• gnomAD v4: 2-52722422-A-G
• MyVariant Identifiers: chr2:g.52949560A>G (hg19) ; chr2:g.52722422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.52722422A>G , CM000664.2:g.52722422A>G	GRCh38
NC_000002.11:g.52949560A>G , CM000664.1:g.52949560A>G	GRCh37
NC_000002.10:g.52803064A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959384.1:n.835T>C