Canonical Allele Identifier: CA2392507304

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125436_46125437delinsAC , CM000683.2:g.46125436_46125437delinsAC	GRCh38
NC_000021.8:g.47545350_47545351delinsAC , CM000683.1:g.47545350_47545351delinsAC	GRCh37
NC_000021.7:g.46369778_46369779delinsAC	NCBI36
NG_008675.1:g.32318_32319delinsAC , LRG_476:g.32318_32319delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-29_1817-28delinsAC MANE Plus Clinical	ENSP00000380870.1:n.1817-29_1817-28delinsAC
ENST00000300527.9:c.1817-29_1817-28delinsAC MANE Select	ENSP00000300527.4:n.1817-29_1817-28delinsAC
ENST00000409416.6:c.1817-29_1817-28delinsAC	ENSP00000387115.1:n.1817-29_1817-28delinsAC
ENST00000300527.8:c.1817-29_1817-28delinsAC	ENSP00000300527.4:n.1817-29_1817-28delinsAC
ENST00000310645.9:c.1817-29_1817-28delinsAC	ENSP00000312529.5:n.1817-29_1817-28delinsAC
ENST00000397763.5:c.1817-29_1817-28delinsAC	ENSP00000380870.1:n.1817-29_1817-28delinsAC
ENST00000409416.5:c.1817-29_1817-28delinsAC	ENSP00000387115.1:n.1817-29_1817-28delinsAC
ENST00000413758.1:c.459_460delinsAC	ENSP00000395751.1:p.Val153=
NM_001849.3:c.1817-29_1817-28delinsAC , LRG_476t1:c.1817-29_1817-28delinsAC	NP_001840.3:n.1817-29_1817-28delinsAC
NM_058174.2:c.1817-29_1817-28delinsAC	NP_478054.2:n.1817-29_1817-28delinsAC
NM_058175.2:c.1817-29_1817-28delinsAC	NP_478055.2:n.1817-29_1817-28delinsAC
XM_011529451.1:c.1817-29_1817-28delinsAC	XP_011527753.1:n.1817-29_1817-28delinsAC
XM_011529452.1:c.1817-29_1817-28delinsAC	XP_011527754.1:n.1817-29_1817-28delinsAC
XR_937438.1:n.1894-29_1894-28delinsAC
XR_937439.1:n.1894-29_1894-28delinsAC
XR_937438.2:n.1901-29_1901-28delinsAC
XR_937439.2:n.1901-29_1901-28delinsAC
NM_001849.4:c.1817-29_1817-28delinsAC MANE Select	NP_001840.3:n.1817-29_1817-28delinsAC
NM_058174.3:c.1817-29_1817-28delinsAC MANE Plus Clinical	NP_478054.2:n.1817-29_1817-28delinsAC
NM_058175.3:c.1817-29_1817-28delinsAC	NP_478055.2:n.1817-29_1817-28delinsAC