Canonical Allele Identifier: CA1726783472

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426606_94426607delinsCT , CM000669.2:g.94426606_94426607delinsCT	GRCh38
NC_000007.13:g.94055918_94055919delinsCT , CM000669.1:g.94055918_94055919delinsCT	GRCh37
NC_000007.12:g.93893854_93893855delinsCT	NCBI36
NG_007405.1:g.37046_37047delinsCT , LRG_2:g.37046_37047delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+76_3105+77delinsCT MANE Select	ENSP00000297268.6:n.3105+76_3105+77delinsCT
ENST00000297268.10:c.3105+76_3105+77delinsCT	ENSP00000297268.6:n.3105+76_3105+77delinsCT
ENST00000478215.1:n.740_741delinsCT
ENST00000481570.5:n.3154_3155delinsCT
ENST00000488121.1:n.21+76_21+77delinsCT
ENST00000620463.1:c.3099+76_3099+77delinsCT	ENSP00000477719.1:n.3099+76_3099+77delinsCT
NM_000089.3:c.3105+76_3105+77delinsCT , LRG_2t1:c.3105+76_3105+77delinsCT	NP_000080.2:n.3105+76_3105+77delinsCT
NM_000089.4:c.3105+76_3105+77delinsCT MANE Select	NP_000080.2:n.3105+76_3105+77delinsCT