Canonical Allele Identifier: CA456489584
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94052307G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422995G>T , CM000669.2:g.94422995G>T GRCh38
NC_000007.13:g.94052307G>T , CM000669.1:g.94052307G>T GRCh37
NC_000007.12:g.93890243G>T NCBI36
NG_007405.1:g.33435G>T , LRG_2:g.33435G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2442G>T MANE Select ENSP00000297268.6:p.Gly814=
ENST00000297268.10:c.2442G>T ENSP00000297268.6:p.Gly814=
ENST00000481570.5:n.525G>T
ENST00000497316.5:n.839G>T
ENST00000620463.1:c.2436G>T ENSP00000477719.1:p.Gly812=
NM_000089.3:c.2442G>T , LRG_2t1:c.2442G>T NP_000080.2:p.Gly814=
NM_000089.4:c.2442G>T MANE Select NP_000080.2:p.Gly814=