Canonical Allele Identifier: CA2544245272

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404787G>A , CM000669.2:g.94404787G>A	GRCh38
NC_000007.13:g.94034099G>A , CM000669.1:g.94034099G>A	GRCh37
NC_000007.12:g.93872035G>A	NCBI36
NG_007405.1:g.15227G>A , LRG_2:g.15227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.378+41G>A MANE Select	ENSP00000297268.6:n.378+41G>A
ENST00000297268.10:c.378+41G>A	ENSP00000297268.6:n.378+41G>A
ENST00000620463.1:c.372+41G>A	ENSP00000477719.1:n.372+41G>A
NM_000089.3:c.378+41G>A , LRG_2t1:c.378+41G>A	NP_000080.2:n.378+41G>A
NM_000089.4:c.378+41G>A MANE Select	NP_000080.2:n.378+41G>A