Canonical Allele Identifier: CA55082068
Gene:

Linked Data

dbSNP Id: rs573963577
gnomAD v3: 2-122884132-C-A
gnomAD v4: 2-122884132-C-A
MyVariant Identifiers: chr2:g.123641708C>A (hg19) chr2:g.122884132C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122884132C>A , CM000664.2:g.122884132C>A GRCh38
NC_000002.11:g.123641708C>A , CM000664.1:g.123641708C>A GRCh37
NC_000002.10:g.123358178C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-810C>A
XR_001739692.1:n.1451-810C>A
XR_923292.2:n.1358-810C>A
Search 100 bp 5'
Search 100 bp 3'