Canonical Allele Identifier: CA2537912185

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422757del , CM000669.2:g.94422757del	GRCh38
NC_000007.13:g.94052069del , CM000669.1:g.94052069del	GRCh37
NC_000007.12:g.93890005del	NCBI36
NG_007405.1:g.33197del , LRG_2:g.33197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-200del MANE Select	ENSP00000297268.6:n.2404-200del
ENST00000297268.10:c.2404-200del	ENSP00000297268.6:n.2404-200del
ENST00000481570.5:n.287del
ENST00000497316.5:n.801-200del
ENST00000620463.1:c.2398-200del	ENSP00000477719.1:n.2398-200del
NM_000089.3:c.2404-200del , LRG_2t1:c.2404-200del	NP_000080.2:n.2404-200del
NM_000089.4:c.2404-200del MANE Select	NP_000080.2:n.2404-200del