Canonical Allele Identifier: CA456489667
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052415A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423103A>C , CM000669.2:g.94423103A>C GRCh38
NC_000007.13:g.94052415A>C , CM000669.1:g.94052415A>C GRCh37
NC_000007.12:g.93890351A>C NCBI36
NG_007405.1:g.33543A>C , LRG_2:g.33543A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2550A>C MANE Select ENSP00000297268.6:p.Gly850=
ENST00000297268.10:c.2550A>C ENSP00000297268.6:p.Gly850=
ENST00000481570.5:n.633A>C
ENST00000497316.5:n.947A>C
ENST00000620463.1:c.2544A>C ENSP00000477719.1:p.Gly848=
NM_000089.3:c.2550A>C , LRG_2t1:c.2550A>C NP_000080.2:p.Gly850=
NM_000089.4:c.2550A>C MANE Select NP_000080.2:p.Gly850=