Canonical Allele Identifier: CA892287844

Gene:

Linked Data

• dbSNP Id: rs1011998989
• gnomAD v3: 2-67637528-G-C
• gnomAD v4: 2-67637528-G-C
• MyVariant Identifiers: chr2:g.67864660G>C (hg19) ; chr2:g.67637528G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.67637528G>C , CM000664.2:g.67637528G>C	GRCh38
NC_000002.11:g.67864660G>C , CM000664.1:g.67864660G>C	GRCh37
NC_000002.10:g.67718164G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739524.1:n.65+13438C>G