Canonical Allele Identifier: CA1726776718

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423044A= , CM000669.2:g.94423044A=	GRCh38
NC_000007.13:g.94052356A= , CM000669.1:g.94052356A=	GRCh37
NC_000007.12:g.93890292A=	NCBI36
NG_007405.1:g.33484A= , LRG_2:g.33484A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2491A= MANE Select	ENSP00000297268.6:p.Thr831=
ENST00000297268.10:c.2491A=	ENSP00000297268.6:p.Thr831=
ENST00000481570.5:n.574A=
ENST00000497316.5:n.888A=
ENST00000620463.1:c.2485A=	ENSP00000477719.1:p.Thr829=
NM_000089.3:c.2491A= , LRG_2t1:c.2491A=	NP_000080.2:p.Thr831=
NM_000089.4:c.2491A= MANE Select	NP_000080.2:p.Thr831=