Canonical Allele Identifier: CA2683766967

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401738-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401738A>G , CM000669.2:g.94401738A>G	GRCh38
NC_000007.13:g.94031050A>G , CM000669.1:g.94031050A>G	GRCh37
NC_000007.12:g.93868986A>G	NCBI36
NG_007405.1:g.12178A>G , LRG_2:g.12178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+118A>G MANE Select	ENSP00000297268.6:n.279+118A>G
ENST00000297268.10:c.279+118A>G	ENSP00000297268.6:n.279+118A>G
ENST00000620463.1:c.273+118A>G	ENSP00000477719.1:n.273+118A>G
NM_000089.3:c.279+118A>G , LRG_2t1:c.279+118A>G	NP_000080.2:n.279+118A>G
NM_000089.4:c.279+118A>G MANE Select	NP_000080.2:n.279+118A>G