Canonical Allele Identifier: CA2392504317

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121788_46121789delinsGC , CM000683.2:g.46121788_46121789delinsGC	GRCh38
NC_000021.8:g.47541702_47541703delinsGC , CM000683.1:g.47541702_47541703delinsGC	GRCh37
NC_000021.7:g.46366130_46366131delinsGC	NCBI36
NG_008675.1:g.28670_28671delinsGC , LRG_476:g.28670_28671delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1521+170_1521+171delinsGC MANE Plus Clinical	ENSP00000380870.1:n.1521+170_1521+171delinsGC
ENST00000300527.9:c.1521+170_1521+171delinsGC MANE Select	ENSP00000300527.4:n.1521+170_1521+171delinsGC
ENST00000409416.6:c.1521+170_1521+171delinsGC	ENSP00000387115.1:n.1521+170_1521+171delinsGC
ENST00000300527.8:c.1521+170_1521+171delinsGC	ENSP00000300527.4:n.1521+170_1521+171delinsGC
ENST00000310645.9:c.1521+170_1521+171delinsGC	ENSP00000312529.5:n.1521+170_1521+171delinsGC
ENST00000397763.5:c.1521+170_1521+171delinsGC	ENSP00000380870.1:n.1521+170_1521+171delinsGC
ENST00000409416.5:c.1521+170_1521+171delinsGC	ENSP00000387115.1:n.1521+170_1521+171delinsGC
ENST00000413758.1:c.144+170_144+171delinsGC	ENSP00000395751.1:n.144+170_144+171delinsGC
NM_001849.3:c.1521+170_1521+171delinsGC , LRG_476t1:c.1521+170_1521+171delinsGC	NP_001840.3:n.1521+170_1521+171delinsGC
NM_058174.2:c.1521+170_1521+171delinsGC	NP_478054.2:n.1521+170_1521+171delinsGC
NM_058175.2:c.1521+170_1521+171delinsGC	NP_478055.2:n.1521+170_1521+171delinsGC
XM_011529451.1:c.1521+170_1521+171delinsGC	XP_011527753.1:n.1521+170_1521+171delinsGC
XM_011529452.1:c.1521+170_1521+171delinsGC	XP_011527754.1:n.1521+170_1521+171delinsGC
XR_937438.1:n.1644+170_1644+171delinsGC
XR_937439.1:n.1644+170_1644+171delinsGC
XR_937438.2:n.1651+170_1651+171delinsGC
XR_937439.2:n.1651+170_1651+171delinsGC
NM_001849.4:c.1521+170_1521+171delinsGC MANE Select	NP_001840.3:n.1521+170_1521+171delinsGC
NM_058174.3:c.1521+170_1521+171delinsGC MANE Plus Clinical	NP_478054.2:n.1521+170_1521+171delinsGC
NM_058175.3:c.1521+170_1521+171delinsGC	NP_478055.2:n.1521+170_1521+171delinsGC