Canonical Allele Identifier: CA2392500508

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115965_46115967delinsAGC , CM000683.2:g.46115965_46115967delinsAGC	GRCh38
NC_000021.8:g.47535879_47535881delinsAGC , CM000683.1:g.47535879_47535881delinsAGC	GRCh37
NC_000021.7:g.46360307_46360309delinsAGC	NCBI36
NG_008675.1:g.22847_22849delinsAGC , LRG_476:g.22847_22849delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.855+40_856-42delinsAGC MANE Plus Clinical	ENSP00000380870.1:n.855+40_856-42delinsAGC
ENST00000300527.9:c.855+40_856-42delinsAGC MANE Select	ENSP00000300527.4:n.855+40_856-42delinsAGC
ENST00000409416.6:c.855+40_856-42delinsAGC	ENSP00000387115.1:n.855+40_856-42delinsAGC
ENST00000300527.8:c.855+40_856-42delinsAGC	ENSP00000300527.4:n.855+40_856-42delinsAGC
ENST00000310645.9:c.855+40_856-42delinsAGC	ENSP00000312529.5:n.855+40_856-42delinsAGC
ENST00000397763.5:c.855+40_856-42delinsAGC	ENSP00000380870.1:n.855+40_856-42delinsAGC
ENST00000409416.5:c.855+40_856-42delinsAGC	ENSP00000387115.1:n.855+40_856-42delinsAGC
ENST00000485591.1:n.511+40_512-42delinsAGC
NM_001849.3:c.855+40_856-42delinsAGC , LRG_476t1:c.855+40_856-42delinsAGC	NP_001840.3:n.855+40_856-42delinsAGC
NM_058174.2:c.855+40_856-42delinsAGC	NP_478054.2:n.855+40_856-42delinsAGC
NM_058175.2:c.855+40_856-42delinsAGC	NP_478055.2:n.855+40_856-42delinsAGC
XM_011529451.1:c.855+40_856-42delinsAGC	XP_011527753.1:n.855+40_856-42delinsAGC
XM_011529452.1:c.855+40_856-42delinsAGC	XP_011527754.1:n.855+40_856-42delinsAGC
XR_937438.1:n.978+40_979-42delinsAGC
XR_937439.1:n.978+40_979-42delinsAGC
XR_937438.2:n.985+40_986-42delinsAGC
XR_937439.2:n.985+40_986-42delinsAGC
NM_001849.4:c.855+40_856-42delinsAGC MANE Select	NP_001840.3:n.855+40_856-42delinsAGC
NM_058174.3:c.855+40_856-42delinsAGC MANE Plus Clinical	NP_478054.2:n.855+40_856-42delinsAGC
NM_058175.3:c.855+40_856-42delinsAGC	NP_478055.2:n.855+40_856-42delinsAGC