Canonical Allele Identifier: CA1726776178

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422826_94422827delinsTC , CM000669.2:g.94422826_94422827delinsTC	GRCh38
NC_000007.13:g.94052138_94052139delinsTC , CM000669.1:g.94052138_94052139delinsTC	GRCh37
NC_000007.12:g.93890074_93890075delinsTC	NCBI36
NG_007405.1:g.33266_33267delinsTC , LRG_2:g.33266_33267delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2404-131_2404-130delinsTC MANE Select	ENSP00000297268.6:n.2404-131_2404-130delinsTC
ENST00000297268.10:c.2404-131_2404-130delinsTC	ENSP00000297268.6:n.2404-131_2404-130delinsTC
ENST00000481570.5:n.356_357delinsTC
ENST00000497316.5:n.801-131_801-130delinsTC
ENST00000620463.1:c.2398-131_2398-130delinsTC	ENSP00000477719.1:n.2398-131_2398-130delinsTC
NM_000089.3:c.2404-131_2404-130delinsTC , LRG_2t1:c.2404-131_2404-130delinsTC	NP_000080.2:n.2404-131_2404-130delinsTC
NM_000089.4:c.2404-131_2404-130delinsTC MANE Select	NP_000080.2:n.2404-131_2404-130delinsTC