Canonical Allele Identifier: CA2522556825

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426394del , CM000669.2:g.94426394del	GRCh38
NC_000007.13:g.94055706del , CM000669.1:g.94055706del	GRCh37
NC_000007.12:g.93893642del	NCBI36
NG_007405.1:g.36834del , LRG_2:g.36834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-29del MANE Select	ENSP00000297268.6:n.2998-29del
ENST00000297268.10:c.2998-29del	ENSP00000297268.6:n.2998-29del
ENST00000478215.1:n.557-29del
ENST00000481570.5:n.2971-29del
ENST00000620463.1:c.2992-29del	ENSP00000477719.1:n.2992-29del
NM_000089.3:c.2998-29del , LRG_2t1:c.2998-29del	NP_000080.2:n.2998-29del
NM_000089.4:c.2998-29del MANE Select	NP_000080.2:n.2998-29del