Canonical Allele Identifier: CA2578942135

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423094dup , CM000669.2:g.94423094dup	GRCh38
NC_000007.13:g.94052406dup , CM000669.1:g.94052406dup	GRCh37
NC_000007.12:g.93890342dup	NCBI36
NG_007405.1:g.33534dup , LRG_2:g.33534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2541dup MANE Select	ENSP00000297268.6:p.Pro848SerfsTer?
ENST00000297268.10:c.2541dup	ENSP00000297268.6:p.Pro848SerfsTer?
ENST00000481570.5:n.624dup
ENST00000497316.5:n.938dup
ENST00000620463.1:c.2535dup	ENSP00000477719.1:p.Pro846SerfsTer?
NM_000089.3:c.2541dup , LRG_2t1:c.2541dup	NP_000080.2:p.Pro848SerfsTer?
NM_000089.4:c.2541dup MANE Select	NP_000080.2:p.Pro848SerfsTer?