Canonical Allele Identifier: CA760372047

Gene:

Linked Data

• dbSNP Id: rs1240306618
• gnomAD v3: 2-168260559-G-T
• gnomAD v4: 2-168260559-G-T
• MyVariant Identifiers: chr2:g.169117069G>T (hg19) ; chr2:g.168260559G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168260559G>T , CM000664.2:g.168260559G>T	GRCh38
NC_000002.11:g.169117069G>T , CM000664.1:g.169117069G>T	GRCh37
NC_000002.10:g.168825315G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739763.1:n.912-4537G>T
XR_001739764.1:n.318-4537G>T
XR_001739765.1:n.436-4537G>T