Canonical Allele Identifier: CA2776986491

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422763C>T , CM000669.2:g.94422763C>T	GRCh38
NC_000007.13:g.94052075C>T , CM000669.1:g.94052075C>T	GRCh37
NC_000007.12:g.93890011C>T	NCBI36
NG_007405.1:g.33203C>T , LRG_2:g.33203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2404-194C>T MANE Select	ENSP00000297268.6:n.2404-194C>T
ENST00000297268.10:c.2404-194C>T	ENSP00000297268.6:n.2404-194C>T
ENST00000481570.5:n.293C>T
ENST00000497316.5:n.801-194C>T
ENST00000620463.1:c.2398-194C>T	ENSP00000477719.1:n.2398-194C>T
NM_000089.3:c.2404-194C>T , LRG_2t1:c.2404-194C>T	NP_000080.2:n.2404-194C>T
NM_000089.4:c.2404-194C>T MANE Select	NP_000080.2:n.2404-194C>T