Canonical Allele Identifier: CA2776991455

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94409203G>A , CM000669.2:g.94409203G>A	GRCh38
NC_000007.13:g.94038515G>A , CM000669.1:g.94038515G>A	GRCh37
NC_000007.12:g.93876451G>A	NCBI36
NG_007405.1:g.19643G>A , LRG_2:g.19643G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.793-119G>A MANE Select	ENSP00000297268.6:n.793-119G>A
ENST00000297268.10:c.793-119G>A	ENSP00000297268.6:n.793-119G>A
ENST00000620463.1:c.787-119G>A	ENSP00000477719.1:n.787-119G>A
NM_000089.3:c.793-119G>A , LRG_2t1:c.793-119G>A	NP_000080.2:n.793-119G>A
NM_000089.4:c.793-119G>A MANE Select	NP_000080.2:n.793-119G>A