Canonical Allele Identifier: CA368219442
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 636693
ClinVar RCV Id: RCV000788599
dbSNP Id: rs1584315929
COSMIC: COSM3642451
MyVariant Identifiers: chr7:g.94033878G>A (hg19) chr7:g.94404566G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404566G>A , CM000669.2:g.94404566G>A GRCh38
NC_000007.13:g.94033878G>A , CM000669.1:g.94033878G>A GRCh37
NC_000007.12:g.93871814G>A NCBI36
NG_007405.1:g.15006G>A , LRG_2:g.15006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.290G>A MANE Select ENSP00000297268.6:p.Gly97Glu
ENST00000297268.10:c.290G>A ENSP00000297268.6:p.Gly97Glu
ENST00000620463.1:c.284G>A ENSP00000477719.1:p.Gly95Glu
NM_000089.3:c.290G>A , LRG_2t1:c.290G>A NP_000080.2:p.Gly97Glu
NM_000089.4:c.290G>A MANE Select NP_000080.2:p.Gly97Glu
Search 100 bp 5'
Search 100 bp 3'