Canonical Allele Identifier: CA2392507324

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125455_46125456delinsAC , CM000683.2:g.46125455_46125456delinsAC	GRCh38
NC_000021.8:g.47545369_47545370delinsAC , CM000683.1:g.47545369_47545370delinsAC	GRCh37
NC_000021.7:g.46369797_46369798delinsAC	NCBI36
NG_008675.1:g.32337_32338delinsAC , LRG_476:g.32337_32338delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-10_1817-9delinsAC MANE Plus Clinical	ENSP00000380870.1:n.1817-10_1817-9delinsAC
ENST00000300527.9:c.1817-10_1817-9delinsAC MANE Select	ENSP00000300527.4:n.1817-10_1817-9delinsAC
ENST00000409416.6:c.1817-10_1817-9delinsAC	ENSP00000387115.1:n.1817-10_1817-9delinsAC
ENST00000300527.8:c.1817-10_1817-9delinsAC	ENSP00000300527.4:n.1817-10_1817-9delinsAC
ENST00000310645.9:c.1817-10_1817-9delinsAC	ENSP00000312529.5:n.1817-10_1817-9delinsAC
ENST00000397763.5:c.1817-10_1817-9delinsAC	ENSP00000380870.1:n.1817-10_1817-9delinsAC
ENST00000409416.5:c.1817-10_1817-9delinsAC	ENSP00000387115.1:n.1817-10_1817-9delinsAC
ENST00000413758.1:c.478_479delinsAC	ENSP00000395751.1:p.Thr160=
NM_001849.3:c.1817-10_1817-9delinsAC , LRG_476t1:c.1817-10_1817-9delinsAC	NP_001840.3:n.1817-10_1817-9delinsAC
NM_058174.2:c.1817-10_1817-9delinsAC	NP_478054.2:n.1817-10_1817-9delinsAC
NM_058175.2:c.1817-10_1817-9delinsAC	NP_478055.2:n.1817-10_1817-9delinsAC
XM_011529451.1:c.1817-10_1817-9delinsAC	XP_011527753.1:n.1817-10_1817-9delinsAC
XM_011529452.1:c.1817-10_1817-9delinsAC	XP_011527754.1:n.1817-10_1817-9delinsAC
XR_937438.1:n.1894-10_1894-9delinsAC
XR_937439.1:n.1894-10_1894-9delinsAC
XR_937438.2:n.1901-10_1901-9delinsAC
XR_937439.2:n.1901-10_1901-9delinsAC
NM_001849.4:c.1817-10_1817-9delinsAC MANE Select	NP_001840.3:n.1817-10_1817-9delinsAC
NM_058174.3:c.1817-10_1817-9delinsAC MANE Plus Clinical	NP_478054.2:n.1817-10_1817-9delinsAC
NM_058175.3:c.1817-10_1817-9delinsAC	NP_478055.2:n.1817-10_1817-9delinsAC