Canonical Allele Identifier: CA1726783424

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426583_94426584delinsTC , CM000669.2:g.94426583_94426584delinsTC	GRCh38
NC_000007.13:g.94055895_94055896delinsTC , CM000669.1:g.94055895_94055896delinsTC	GRCh37
NC_000007.12:g.93893831_93893832delinsTC	NCBI36
NG_007405.1:g.37023_37024delinsTC , LRG_2:g.37023_37024delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+53_3105+54delinsTC MANE Select	ENSP00000297268.6:n.3105+53_3105+54delinsTC
ENST00000297268.10:c.3105+53_3105+54delinsTC	ENSP00000297268.6:n.3105+53_3105+54delinsTC
ENST00000478215.1:n.717_718delinsTC
ENST00000481570.5:n.3131_3132delinsTC
ENST00000488121.1:n.21+53_21+54delinsTC
ENST00000620463.1:c.3099+53_3099+54delinsTC	ENSP00000477719.1:n.3099+53_3099+54delinsTC
NM_000089.3:c.3105+53_3105+54delinsTC , LRG_2t1:c.3105+53_3105+54delinsTC	NP_000080.2:n.3105+53_3105+54delinsTC
NM_000089.4:c.3105+53_3105+54delinsTC MANE Select	NP_000080.2:n.3105+53_3105+54delinsTC