Canonical Allele Identifier: CA2776986497

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422814dup , CM000669.2:g.94422814dup	GRCh38
NC_000007.13:g.94052126dup , CM000669.1:g.94052126dup	GRCh37
NC_000007.12:g.93890062dup	NCBI36
NG_007405.1:g.33254dup , LRG_2:g.33254dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2404-143dup MANE Select	ENSP00000297268.6:n.2404-143dup
ENST00000297268.10:c.2404-143dup	ENSP00000297268.6:n.2404-143dup
ENST00000481570.5:n.344dup
ENST00000497316.5:n.801-143dup
ENST00000620463.1:c.2398-143dup	ENSP00000477719.1:n.2398-143dup
NM_000089.3:c.2404-143dup , LRG_2t1:c.2404-143dup	NP_000080.2:n.2404-143dup
NM_000089.4:c.2404-143dup MANE Select	NP_000080.2:n.2404-143dup