Canonical Allele Identifier: CA368225141
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426464A>C , CM000669.2:g.94426464A>C GRCh38
NC_000007.13:g.94055776A>C , CM000669.1:g.94055776A>C GRCh37
NC_000007.12:g.93893712A>C NCBI36
NG_007405.1:g.36904A>C , LRG_2:g.36904A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3039A>C MANE Select ENSP00000297268.6:p.Glu1013Asp
ENST00000297268.10:c.3039A>C ENSP00000297268.6:p.Glu1013Asp
ENST00000478215.1:n.598A>C
ENST00000481570.5:n.3012A>C
ENST00000620463.1:c.3033A>C ENSP00000477719.1:p.Glu1011Asp
NM_000089.3:c.3039A>C , LRG_2t1:c.3039A>C NP_000080.2:p.Glu1013Asp
NM_000089.4:c.3039A>C MANE Select NP_000080.2:p.Glu1013Asp