Canonical Allele Identifier: CA538890439

Gene:

Linked Data

• dbSNP Id: rs1158730999
• gnomAD v2: 2-200897767-G-C
• gnomAD v3: 2-200033044-G-C
• gnomAD v4: 2-200033044-G-C
• MyVariant Identifiers: chr2:g.200897767G>C (hg19) ; chr2:g.200033044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033044G>C , CM000664.2:g.200033044G>C	GRCh38
NC_000002.11:g.200897767G>C , CM000664.1:g.200897767G>C	GRCh37
NC_000002.10:g.200606012G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22148C>G