Canonical Allele Identifier: CA54648297

Gene:

Linked Data

• dbSNP Id: rs565177939
• gnomAD v2: 2-121089574-A-C
• gnomAD v3: 2-120331998-A-C
• gnomAD v4: 2-120331998-A-C
• MyVariant Identifiers: chr2:g.121089574A>C (hg19) ; chr2:g.120331998A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120331998A>C , CM000664.2:g.120331998A>C	GRCh38
NC_000002.11:g.121089574A>C , CM000664.1:g.121089574A>C	GRCh37
NC_000002.10:g.120806044A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011512307.1:c.141+3192A>C	XP_011510609.1:n.141+3192A>C