Canonical Allele Identifier: CA50218032

Gene:

Linked Data

• dbSNP Id: rs769850054
• gnomAD v2: 2-67864616-T-C
• gnomAD v3: 2-67637484-T-C
• gnomAD v4: 2-67637484-T-C
• MyVariant Identifiers: chr2:g.67864616T>C (hg19) ; chr2:g.67637484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.67637484T>C , CM000664.2:g.67637484T>C	GRCh38
NC_000002.11:g.67864616T>C , CM000664.1:g.67864616T>C	GRCh37
NC_000002.10:g.67718120T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739524.1:n.65+13482A>G