Canonical Allele Identifier: CA368224126
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423093G>T , CM000669.2:g.94423093G>T GRCh38
NC_000007.13:g.94052405G>T , CM000669.1:g.94052405G>T GRCh37
NC_000007.12:g.93890341G>T NCBI36
NG_007405.1:g.33533G>T , LRG_2:g.33533G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2540G>T MANE Select ENSP00000297268.6:p.Gly847Val
ENST00000297268.10:c.2540G>T ENSP00000297268.6:p.Gly847Val
ENST00000481570.5:n.623G>T
ENST00000497316.5:n.937G>T
ENST00000620463.1:c.2534G>T ENSP00000477719.1:p.Gly845Val
NM_000089.3:c.2540G>T , LRG_2t1:c.2540G>T NP_000080.2:p.Gly847Val
NM_000089.4:c.2540G>T MANE Select NP_000080.2:p.Gly847Val