Canonical Allele Identifier: CA456489551
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052274T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422962T>A , CM000669.2:g.94422962T>A GRCh38
NC_000007.13:g.94052274T>A , CM000669.1:g.94052274T>A GRCh37
NC_000007.12:g.93890210T>A NCBI36
NG_007405.1:g.33402T>A , LRG_2:g.33402T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2409T>A MANE Select ENSP00000297268.6:p.Ile803=
ENST00000297268.10:c.2409T>A ENSP00000297268.6:p.Ile803=
ENST00000481570.5:n.492T>A
ENST00000497316.5:n.806T>A
ENST00000620463.1:c.2403T>A ENSP00000477719.1:p.Ile801=
NM_000089.3:c.2409T>A , LRG_2t1:c.2409T>A NP_000080.2:p.Ile803=
NM_000089.4:c.2409T>A MANE Select NP_000080.2:p.Ile803=