Canonical Allele Identifier: CA1726792259

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404859_94404860delinsTC , CM000669.2:g.94404859_94404860delinsTC	GRCh38
NC_000007.13:g.94034171_94034172delinsTC , CM000669.1:g.94034171_94034172delinsTC	GRCh37
NC_000007.12:g.93872107_93872108delinsTC	NCBI36
NG_007405.1:g.15299_15300delinsTC , LRG_2:g.15299_15300delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.399_400delinsTC MANE Select	ENSP00000297268.6:p.Gly133=
ENST00000297268.10:c.399_400delinsTC	ENSP00000297268.6:p.Gly133=
ENST00000620463.1:c.393_394delinsTC	ENSP00000477719.1:p.Gly131=
NM_000089.3:c.399_400delinsTC , LRG_2t1:c.399_400delinsTC	NP_000080.2:p.Gly133=
NM_000089.4:c.399_400delinsTC MANE Select	NP_000080.2:p.Gly133=