Canonical Allele Identifier: CA2683767084

Gene: COL1A2

Linked Data

• ClinVar Variation Id: 2928227
• ClinVar RCV Id: RCV003787049
• gnomAD v4: 7-94404614-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404614G>A , CM000669.2:g.94404614G>A	GRCh38
NC_000007.13:g.94033926G>A , CM000669.1:g.94033926G>A	GRCh37
NC_000007.12:g.93871862G>A	NCBI36
NG_007405.1:g.15054G>A , LRG_2:g.15054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.324+14G>A MANE Select	ENSP00000297268.6:n.324+14G>A
ENST00000297268.10:c.324+14G>A	ENSP00000297268.6:n.324+14G>A
ENST00000620463.1:c.318+14G>A	ENSP00000477719.1:n.318+14G>A
NM_000089.3:c.324+14G>A , LRG_2t1:c.324+14G>A	NP_000080.2:n.324+14G>A
NM_000089.4:c.324+14G>A MANE Select	NP_000080.2:n.324+14G>A