Canonical Allele Identifier: CA456489623
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052355A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423043A>T , CM000669.2:g.94423043A>T GRCh38
NC_000007.13:g.94052355A>T , CM000669.1:g.94052355A>T GRCh37
NC_000007.12:g.93890291A>T NCBI36
NG_007405.1:g.33483A>T , LRG_2:g.33483A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2490A>T MANE Select ENSP00000297268.6:p.Arg830=
ENST00000297268.10:c.2490A>T ENSP00000297268.6:p.Arg830=
ENST00000481570.5:n.573A>T
ENST00000497316.5:n.887A>T
ENST00000620463.1:c.2484A>T ENSP00000477719.1:p.Arg828=
NM_000089.3:c.2490A>T , LRG_2t1:c.2490A>T NP_000080.2:p.Arg830=
NM_000089.4:c.2490A>T MANE Select NP_000080.2:p.Arg830=
Search 100 bp 5'
Search 100 bp 3'