Canonical Allele Identifier: CA55082034
Gene:

Linked Data

dbSNP Id: rs984053666
gnomAD v3: 2-122883971-C-T
gnomAD v4: 2-122883971-C-T
MyVariant Identifiers: chr2:g.123641547C>T (hg19) chr2:g.122883971C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.122883971C>T , CM000664.2:g.122883971C>T GRCh38
NC_000002.11:g.123641547C>T , CM000664.1:g.123641547C>T GRCh37
NC_000002.10:g.123358017C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923292.1:n.1125-971C>T
XR_001739692.1:n.1451-971C>T
XR_923292.2:n.1358-971C>T
Search 100 bp 5'
Search 100 bp 3'