Canonical Allele Identifier: CA2578941495

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404783T>C , CM000669.2:g.94404783T>C	GRCh38
NC_000007.13:g.94034095T>C , CM000669.1:g.94034095T>C	GRCh37
NC_000007.12:g.93872031T>C	NCBI36
NG_007405.1:g.15223T>C , LRG_2:g.15223T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.378+37T>C MANE Select	ENSP00000297268.6:n.378+37T>C
ENST00000297268.10:c.378+37T>C	ENSP00000297268.6:n.378+37T>C
ENST00000620463.1:c.372+37T>C	ENSP00000477719.1:n.372+37T>C
NM_000089.3:c.378+37T>C , LRG_2t1:c.378+37T>C	NP_000080.2:n.378+37T>C
NM_000089.4:c.378+37T>C MANE Select	NP_000080.2:n.378+37T>C