Canonical Allele Identifier: CA538757912

Gene:

Linked Data

• dbSNP Id: rs1218712077
• gnomAD v2: 2-195871694-C-T
• gnomAD v3: 2-195006970-C-T
• gnomAD v4: 2-195006970-C-T
• MyVariant Identifiers: chr2:g.195871694C>T (hg19) ; chr2:g.195006970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006970C>T , CM000664.2:g.195006970C>T	GRCh38
NC_000002.11:g.195871694C>T , CM000664.1:g.195871694C>T	GRCh37
NC_000002.10:g.195579939C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52465G>A