Canonical Allele Identifier: CA368219440
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404565G>C , CM000669.2:g.94404565G>C GRCh38
NC_000007.13:g.94033877G>C , CM000669.1:g.94033877G>C GRCh37
NC_000007.12:g.93871813G>C NCBI36
NG_007405.1:g.15005G>C , LRG_2:g.15005G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.289G>C MANE Select ENSP00000297268.6:p.Gly97Arg
ENST00000297268.10:c.289G>C ENSP00000297268.6:p.Gly97Arg
ENST00000620463.1:c.283G>C ENSP00000477719.1:p.Gly95Arg
NM_000089.3:c.289G>C , LRG_2t1:c.289G>C NP_000080.2:p.Gly97Arg
NM_000089.4:c.289G>C MANE Select NP_000080.2:p.Gly97Arg