Canonical Allele Identifier: CA1104598007

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792206147
• gnomAD v3: 7-94423229-A-G
• gnomAD v4: 7-94423229-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423229A>G , CM000669.2:g.94423229A>G	GRCh38
NC_000007.13:g.94052541A>G , CM000669.1:g.94052541A>G	GRCh37
NC_000007.12:g.93890477A>G	NCBI36
NG_007405.1:g.33669A>G , LRG_2:g.33669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565+111A>G MANE Select	ENSP00000297268.6:n.2565+111A>G
ENST00000297268.10:c.2565+111A>G	ENSP00000297268.6:n.2565+111A>G
ENST00000481570.5:n.759A>G
ENST00000620463.1:c.2559+111A>G	ENSP00000477719.1:n.2559+111A>G
NM_000089.3:c.2565+111A>G , LRG_2t1:c.2565+111A>G	NP_000080.2:n.2565+111A>G
NM_000089.4:c.2565+111A>G MANE Select	NP_000080.2:n.2565+111A>G