Canonical Allele Identifier: CA2392507592

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125824_46125832delinsCCTTTGAGG , CM000683.2:g.46125824_46125832delinsCCTTTGAGG	GRCh38
NC_000021.8:g.47545738_47545746delinsCCTTTGAGG , CM000683.1:g.47545738_47545746delinsCCTTTGAGG	GRCh37
NC_000021.7:g.46370166_46370174delinsCCTTTGAGG	NCBI36
NG_008675.1:g.32706_32714delinsCCTTTGAGG , LRG_476:g.32706_32714delinsCCTTTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2009_2017delinsCCTTTGAGG MANE Plus Clinical	ENSP00000380870.1:p.Thr670=
ENST00000300527.9:c.2009_2017delinsCCTTTGAGG MANE Select	ENSP00000300527.4:p.Thr670=
ENST00000409416.6:c.2009_2017delinsCCTTTGAGG	ENSP00000387115.1:p.Thr670=
ENST00000300527.8:c.2009_2017delinsCCTTTGAGG	ENSP00000300527.4:p.Thr670=
ENST00000310645.9:c.2009_2017delinsCCTTTGAGG	ENSP00000312529.5:p.Thr670=
ENST00000397763.5:c.2009_2017delinsCCTTTGAGG	ENSP00000380870.1:p.Thr670=
ENST00000409416.5:c.2009_2017delinsCCTTTGAGG	ENSP00000387115.1:p.Thr670=
ENST00000413758.1:c.680_688delinsCCTTTGAGG	ENSP00000395751.1:p.Thr227=
NM_001849.3:c.2009_2017delinsCCTTTGAGG , LRG_476t1:c.2009_2017delinsCCTTTGAGG	NP_001840.3:p.Thr670=
NM_058174.2:c.2009_2017delinsCCTTTGAGG	NP_478054.2:p.Thr670=
NM_058175.2:c.2009_2017delinsCCTTTGAGG	NP_478055.2:p.Thr670=
XM_011529451.1:c.2009_2017delinsCCTTTGAGG	XP_011527753.1:p.Thr670=
XM_011529452.1:c.2009_2017delinsCCTTTGAGG	XP_011527754.1:p.Thr670=
XR_937438.1:n.2086_2094delinsCCTTTGAGG
XR_937439.1:n.2086_2094delinsCCTTTGAGG
XR_937438.2:n.2093_2101delinsCCTTTGAGG
XR_937439.2:n.2093_2101delinsCCTTTGAGG
NM_001849.4:c.2009_2017delinsCCTTTGAGG MANE Select	NP_001840.3:p.Thr670=
NM_058174.3:c.2009_2017delinsCCTTTGAGG MANE Plus Clinical	NP_478054.2:p.Thr670=
NM_058175.3:c.2009_2017delinsCCTTTGAGG	NP_478055.2:p.Thr670=