Canonical Allele Identifier: CA162937863

Gene: COL1A2

Linked Data

• dbSNP Id: rs766385833
• gnomAD v2: 7-94052144-A-C
• gnomAD v3: 7-94422832-A-C
• gnomAD v4: 7-94422832-A-C
• MyVariant Identifiers: chr7:g.94052144A>C (hg19) ; chr7:g.94422832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422832A>C , CM000669.2:g.94422832A>C	GRCh38
NC_000007.13:g.94052144A>C , CM000669.1:g.94052144A>C	GRCh37
NC_000007.12:g.93890080A>C	NCBI36
NG_007405.1:g.33272A>C , LRG_2:g.33272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-125A>C MANE Select	ENSP00000297268.6:n.2404-125A>C
ENST00000297268.10:c.2404-125A>C	ENSP00000297268.6:n.2404-125A>C
ENST00000481570.5:n.362A>C
ENST00000497316.5:n.801-125A>C
ENST00000620463.1:c.2398-125A>C	ENSP00000477719.1:n.2398-125A>C
NM_000089.3:c.2404-125A>C , LRG_2t1:c.2404-125A>C	NP_000080.2:n.2404-125A>C
NM_000089.4:c.2404-125A>C MANE Select	NP_000080.2:n.2404-125A>C