Canonical Allele Identifier: CA50218039

Gene:

Linked Data

• dbSNP Id: rs4141819
• gnomAD v2: 2-67864675-C-T
• gnomAD v3: 2-67637543-C-T
• gnomAD v4: 2-67637543-C-T
• MyVariant Identifiers: chr2:g.67864675C>T (hg19) ; chr2:g.67637543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.67637543C>T , CM000664.2:g.67637543C>T	GRCh38
NC_000002.11:g.67864675C>T , CM000664.1:g.67864675C>T	GRCh37
NC_000002.10:g.67718179C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739524.1:n.65+13423G>A