Canonical Allele Identifier: CA63405667

Gene:

Linked Data

• dbSNP Id: rs781521594
• gnomAD v3: 2-195007047-T-C
• gnomAD v4: 2-195007047-T-C
• MyVariant Identifiers: chr2:g.195871771T>C (hg19) ; chr2:g.195007047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195007047T>C , CM000664.2:g.195007047T>C	GRCh38
NC_000002.11:g.195871771T>C , CM000664.1:g.195871771T>C	GRCh37
NC_000002.10:g.195580016T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001739836.1:n.553+52388A>G