Canonical Allele Identifier: CA1104597877

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792194757
• gnomAD v3: 7-94422820-A-C
• gnomAD v4: 7-94422820-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422820A>C , CM000669.2:g.94422820A>C	GRCh38
NC_000007.13:g.94052132A>C , CM000669.1:g.94052132A>C	GRCh37
NC_000007.12:g.93890068A>C	NCBI36
NG_007405.1:g.33260A>C , LRG_2:g.33260A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-137A>C MANE Select	ENSP00000297268.6:n.2404-137A>C
ENST00000297268.10:c.2404-137A>C	ENSP00000297268.6:n.2404-137A>C
ENST00000481570.5:n.350A>C
ENST00000497316.5:n.801-137A>C
ENST00000620463.1:c.2398-137A>C	ENSP00000477719.1:n.2398-137A>C
NM_000089.3:c.2404-137A>C , LRG_2t1:c.2404-137A>C	NP_000080.2:n.2404-137A>C
NM_000089.4:c.2404-137A>C MANE Select	NP_000080.2:n.2404-137A>C