Canonical Allele Identifier: CA2578942149

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94424272C>A , CM000669.2:g.94424272C>A	GRCh38
NC_000007.13:g.94053584C>A , CM000669.1:g.94053584C>A	GRCh37
NC_000007.12:g.93891520C>A	NCBI36
NG_007405.1:g.34712C>A , LRG_2:g.34712C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2566-64C>A MANE Select	ENSP00000297268.6:n.2566-64C>A
ENST00000297268.10:c.2566-64C>A	ENSP00000297268.6:n.2566-64C>A
ENST00000469732.1:n.285C>A
ENST00000481570.5:n.1802C>A
ENST00000620463.1:c.2560-64C>A	ENSP00000477719.1:n.2560-64C>A
NM_000089.3:c.2566-64C>A , LRG_2t1:c.2566-64C>A	NP_000080.2:n.2566-64C>A
NM_000089.4:c.2566-64C>A MANE Select	NP_000080.2:n.2566-64C>A