Canonical Allele Identifier: CA1726783035

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426383_94426384delinsTA , CM000669.2:g.94426383_94426384delinsTA	GRCh38
NC_000007.13:g.94055695_94055696delinsTA , CM000669.1:g.94055695_94055696delinsTA	GRCh37
NC_000007.12:g.93893631_93893632delinsTA	NCBI36
NG_007405.1:g.36823_36824delinsTA , LRG_2:g.36823_36824delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-40_2998-39delinsTA MANE Select	ENSP00000297268.6:n.2998-40_2998-39delinsTA
ENST00000297268.10:c.2998-40_2998-39delinsTA	ENSP00000297268.6:n.2998-40_2998-39delinsTA
ENST00000478215.1:n.557-40_557-39delinsTA
ENST00000481570.5:n.2971-40_2971-39delinsTA
ENST00000620463.1:c.2992-40_2992-39delinsTA	ENSP00000477719.1:n.2992-40_2992-39delinsTA
NM_000089.3:c.2998-40_2998-39delinsTA , LRG_2t1:c.2998-40_2998-39delinsTA	NP_000080.2:n.2998-40_2998-39delinsTA
NM_000089.4:c.2998-40_2998-39delinsTA MANE Select	NP_000080.2:n.2998-40_2998-39delinsTA