Canonical Allele Identifier: CA1104604108

Gene: COL1A2

Linked Data

• dbSNP Id: rs999157809
• gnomAD v3: 7-94401363-C-A
• gnomAD v4: 7-94401363-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401363C>A , CM000669.2:g.94401363C>A	GRCh38
NC_000007.13:g.94030675C>A , CM000669.1:g.94030675C>A	GRCh37
NC_000007.12:g.93868611C>A	NCBI36
NG_007405.1:g.11803C>A , LRG_2:g.11803C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-204C>A MANE Select	ENSP00000297268.6:n.226-204C>A
ENST00000297268.10:c.226-204C>A	ENSP00000297268.6:n.226-204C>A
ENST00000620463.1:c.220-204C>A	ENSP00000477719.1:n.220-204C>A
NM_000089.3:c.226-204C>A , LRG_2t1:c.226-204C>A	NP_000080.2:n.226-204C>A
NM_000089.4:c.226-204C>A MANE Select	NP_000080.2:n.226-204C>A