Canonical Allele Identifier: CA11191322

Gene:

Identifiers and link-outs to other resources

• dbSNP Id: rs10187424
• gnomAD: 2:85794297 T / C
• MyVariant Identifiers: chr2:g.85794297T>C (hg19) ; chr2:g.85567174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85567174T>C , CM000664.2:g.85567174T>C	GRCh38
NC_000002.11:g.85794297T>C , CM000664.1:g.85794297T>C	GRCh37
NC_000002.10:g.85647808T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000432071.1:c.-76+5530T>C	ENSP00000407984.1:p.=