Canonical Allele Identifier: CA368222901
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417797G>A , CM000669.2:g.94417797G>A GRCh38
NC_000007.13:g.94047109G>A , CM000669.1:g.94047109G>A GRCh37
NC_000007.12:g.93885045G>A NCBI36
NG_007405.1:g.28237G>A , LRG_2:g.28237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1937G>A MANE Select ENSP00000297268.6:p.Gly646Asp
ENST00000297268.10:c.1937G>A ENSP00000297268.6:p.Gly646Asp
ENST00000461525.5:n.26G>A
ENST00000473573.5:n.274G>A
ENST00000497316.5:n.334G>A
ENST00000620463.1:c.1931G>A ENSP00000477719.1:p.Gly644Asp
NM_000089.3:c.1937G>A , LRG_2t1:c.1937G>A NP_000080.2:p.Gly646Asp
NM_000089.4:c.1937G>A MANE Select NP_000080.2:p.Gly646Asp