Canonical Allele Identifier: CA2683772070

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94422843-GTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422848_94422850del , CM000669.2:g.94422848_94422850del	GRCh38
NC_000007.13:g.94052160_94052162del , CM000669.1:g.94052160_94052162del	GRCh37
NC_000007.12:g.93890096_93890098del	NCBI36
NG_007405.1:g.33288_33290del , LRG_2:g.33288_33290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-109_2404-107del MANE Select	ENSP00000297268.6:n.2404-109_2404-107del
ENST00000297268.10:c.2404-109_2404-107del	ENSP00000297268.6:n.2404-109_2404-107del
ENST00000481570.5:n.378_380del
ENST00000497316.5:n.801-109_801-107del
ENST00000620463.1:c.2398-109_2398-107del	ENSP00000477719.1:n.2398-109_2398-107del
NM_000089.3:c.2404-109_2404-107del , LRG_2t1:c.2404-109_2404-107del	NP_000080.2:n.2404-109_2404-107del
NM_000089.4:c.2404-109_2404-107del MANE Select	NP_000080.2:n.2404-109_2404-107del