Canonical Allele Identifier: CA538757909

Gene:

Linked Data

• dbSNP Id: rs1234346092
• gnomAD v2: 2-195871684-C-A
• gnomAD v3: 2-195006960-C-A
• gnomAD v4: 2-195006960-C-A
• MyVariant Identifiers: chr2:g.195871684C>A (hg19) ; chr2:g.195006960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195006960C>A , CM000664.2:g.195006960C>A	GRCh38
NC_000002.11:g.195871684C>A , CM000664.1:g.195871684C>A	GRCh37
NC_000002.10:g.195579929C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52475G>T