Canonical Allele Identifier: CA11169972

Gene:

Linked Data

• dbSNP Id: rs203770
• gnomAD v2: 2-200897873-T-C
• gnomAD v3: 2-200033150-T-C
• gnomAD v4: 2-200033150-T-C
• MyVariant Identifiers: chr2:g.200897873T>C (hg19) ; chr2:g.200033150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033150T>C , CM000664.2:g.200033150T>C	GRCh38
NC_000002.11:g.200897873T>C , CM000664.1:g.200897873T>C	GRCh37
NC_000002.10:g.200606118T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22254A>G