Canonical Allele Identifier: CA2548957693

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404802dup , CM000669.2:g.94404802dup	GRCh38
NC_000007.13:g.94034114dup , CM000669.1:g.94034114dup	GRCh37
NC_000007.12:g.93872050dup	NCBI36
NG_007405.1:g.15242dup , LRG_2:g.15242dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.379-37dup MANE Select	ENSP00000297268.6:n.379-37dup
ENST00000297268.10:c.379-37dup	ENSP00000297268.6:n.379-37dup
ENST00000620463.1:c.373-37dup	ENSP00000477719.1:n.373-37dup
NM_000089.3:c.379-37dup , LRG_2t1:c.379-37dup	NP_000080.2:n.379-37dup
NM_000089.4:c.379-37dup MANE Select	NP_000080.2:n.379-37dup