Canonical Allele Identifier: CA2683767109

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94404801-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404801A>G , CM000669.2:g.94404801A>G	GRCh38
NC_000007.13:g.94034113A>G , CM000669.1:g.94034113A>G	GRCh37
NC_000007.12:g.93872049A>G	NCBI36
NG_007405.1:g.15241A>G , LRG_2:g.15241A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.379-38A>G MANE Select	ENSP00000297268.6:n.379-38A>G
ENST00000297268.10:c.379-38A>G	ENSP00000297268.6:n.379-38A>G
ENST00000620463.1:c.373-38A>G	ENSP00000477719.1:n.373-38A>G
NM_000089.3:c.379-38A>G , LRG_2t1:c.379-38A>G	NP_000080.2:n.379-38A>G
NM_000089.4:c.379-38A>G MANE Select	NP_000080.2:n.379-38A>G