Canonical Allele Identifier: CA1726776157

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422809_94422811delinsTAA , CM000669.2:g.94422809_94422811delinsTAA	GRCh38
NC_000007.13:g.94052121_94052123delinsTAA , CM000669.1:g.94052121_94052123delinsTAA	GRCh37
NC_000007.12:g.93890057_93890059delinsTAA	NCBI36
NG_007405.1:g.33249_33251delinsTAA , LRG_2:g.33249_33251delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-148_2404-146delinsTAA MANE Select	ENSP00000297268.6:n.2404-148_2404-146delinsTAA
ENST00000297268.10:c.2404-148_2404-146delinsTAA	ENSP00000297268.6:n.2404-148_2404-146delinsTAA
ENST00000481570.5:n.339_341delinsTAA
ENST00000497316.5:n.801-148_801-146delinsTAA
ENST00000620463.1:c.2398-148_2398-146delinsTAA	ENSP00000477719.1:n.2398-148_2398-146delinsTAA
NM_000089.3:c.2404-148_2404-146delinsTAA , LRG_2t1:c.2404-148_2404-146delinsTAA	NP_000080.2:n.2404-148_2404-146delinsTAA
NM_000089.4:c.2404-148_2404-146delinsTAA MANE Select	NP_000080.2:n.2404-148_2404-146delinsTAA