Canonical Allele Identifier: CA2392500510

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115966_46115969delinsGCGC , CM000683.2:g.46115966_46115969delinsGCGC	GRCh38
NC_000021.8:g.47535880_47535883delinsGCGC , CM000683.1:g.47535880_47535883delinsGCGC	GRCh37
NC_000021.7:g.46360308_46360311delinsGCGC	NCBI36
NG_008675.1:g.22848_22851delinsGCGC , LRG_476:g.22848_22851delinsGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.855+41_856-40delinsGCGC MANE Plus Clinical	ENSP00000380870.1:n.855+41_856-40delinsGCGC
ENST00000300527.9:c.855+41_856-40delinsGCGC MANE Select	ENSP00000300527.4:n.855+41_856-40delinsGCGC
ENST00000409416.6:c.855+41_856-40delinsGCGC	ENSP00000387115.1:n.855+41_856-40delinsGCGC
ENST00000300527.8:c.855+41_856-40delinsGCGC	ENSP00000300527.4:n.855+41_856-40delinsGCGC
ENST00000310645.9:c.855+41_856-40delinsGCGC	ENSP00000312529.5:n.855+41_856-40delinsGCGC
ENST00000397763.5:c.855+41_856-40delinsGCGC	ENSP00000380870.1:n.855+41_856-40delinsGCGC
ENST00000409416.5:c.855+41_856-40delinsGCGC	ENSP00000387115.1:n.855+41_856-40delinsGCGC
ENST00000485591.1:n.511+41_512-40delinsGCGC
NM_001849.3:c.855+41_856-40delinsGCGC , LRG_476t1:c.855+41_856-40delinsGCGC	NP_001840.3:n.855+41_856-40delinsGCGC
NM_058174.2:c.855+41_856-40delinsGCGC	NP_478054.2:n.855+41_856-40delinsGCGC
NM_058175.2:c.855+41_856-40delinsGCGC	NP_478055.2:n.855+41_856-40delinsGCGC
XM_011529451.1:c.855+41_856-40delinsGCGC	XP_011527753.1:n.855+41_856-40delinsGCGC
XM_011529452.1:c.855+41_856-40delinsGCGC	XP_011527754.1:n.855+41_856-40delinsGCGC
XR_937438.1:n.978+41_979-40delinsGCGC
XR_937439.1:n.978+41_979-40delinsGCGC
XR_937438.2:n.985+41_986-40delinsGCGC
XR_937439.2:n.985+41_986-40delinsGCGC
NM_001849.4:c.855+41_856-40delinsGCGC MANE Select	NP_001840.3:n.855+41_856-40delinsGCGC
NM_058174.3:c.855+41_856-40delinsGCGC MANE Plus Clinical	NP_478054.2:n.855+41_856-40delinsGCGC
NM_058175.3:c.855+41_856-40delinsGCGC	NP_478055.2:n.855+41_856-40delinsGCGC