Canonical Allele Identifier: CA456489659
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052406T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423094T>A , CM000669.2:g.94423094T>A GRCh38
NC_000007.13:g.94052406T>A , CM000669.1:g.94052406T>A GRCh37
NC_000007.12:g.93890342T>A NCBI36
NG_007405.1:g.33534T>A , LRG_2:g.33534T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2541T>A MANE Select ENSP00000297268.6:p.Gly847=
ENST00000297268.10:c.2541T>A ENSP00000297268.6:p.Gly847=
ENST00000481570.5:n.624T>A
ENST00000497316.5:n.938T>A
ENST00000620463.1:c.2535T>A ENSP00000477719.1:p.Gly845=
NM_000089.3:c.2541T>A , LRG_2t1:c.2541T>A NP_000080.2:p.Gly847=
NM_000089.4:c.2541T>A MANE Select NP_000080.2:p.Gly847=