Canonical Allele Identifier: CA63405668

Gene:

Linked Data

• dbSNP Id: rs748733495
• gnomAD v2: 2-195871784-G-A
• gnomAD v3: 2-195007060-G-A
• gnomAD v4: 2-195007060-G-A
• MyVariant Identifiers: chr2:g.195871784G>A (hg19) ; chr2:g.195007060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007060G>A , CM000664.2:g.195007060G>A	GRCh38
NC_000002.11:g.195871784G>A , CM000664.1:g.195871784G>A	GRCh37
NC_000002.10:g.195580029G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52375C>T