Canonical Allele Identifier: CA2392507289

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125415_46125416delinsAG , CM000683.2:g.46125415_46125416delinsAG	GRCh38
NC_000021.8:g.47545329_47545330delinsAG , CM000683.1:g.47545329_47545330delinsAG	GRCh37
NC_000021.7:g.46369757_46369758delinsAG	NCBI36
NG_008675.1:g.32297_32298delinsAG , LRG_476:g.32297_32298delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-50_1817-49delinsAG MANE Plus Clinical	ENSP00000380870.1:n.1817-50_1817-49delinsAG
ENST00000300527.9:c.1817-50_1817-49delinsAG MANE Select	ENSP00000300527.4:n.1817-50_1817-49delinsAG
ENST00000409416.6:c.1817-50_1817-49delinsAG	ENSP00000387115.1:n.1817-50_1817-49delinsAG
ENST00000300527.8:c.1817-50_1817-49delinsAG	ENSP00000300527.4:n.1817-50_1817-49delinsAG
ENST00000310645.9:c.1817-50_1817-49delinsAG	ENSP00000312529.5:n.1817-50_1817-49delinsAG
ENST00000397763.5:c.1817-50_1817-49delinsAG	ENSP00000380870.1:n.1817-50_1817-49delinsAG
ENST00000409416.5:c.1817-50_1817-49delinsAG	ENSP00000387115.1:n.1817-50_1817-49delinsAG
ENST00000413758.1:c.440-2_440-1delinsAG	ENSP00000395751.1:n.440-2_440-1delinsAG
NM_001849.3:c.1817-50_1817-49delinsAG , LRG_476t1:c.1817-50_1817-49delinsAG	NP_001840.3:n.1817-50_1817-49delinsAG
NM_058174.2:c.1817-50_1817-49delinsAG	NP_478054.2:n.1817-50_1817-49delinsAG
NM_058175.2:c.1817-50_1817-49delinsAG	NP_478055.2:n.1817-50_1817-49delinsAG
XM_011529451.1:c.1817-50_1817-49delinsAG	XP_011527753.1:n.1817-50_1817-49delinsAG
XM_011529452.1:c.1817-50_1817-49delinsAG	XP_011527754.1:n.1817-50_1817-49delinsAG
XR_937438.1:n.1894-50_1894-49delinsAG
XR_937439.1:n.1894-50_1894-49delinsAG
XR_937438.2:n.1901-50_1901-49delinsAG
XR_937439.2:n.1901-50_1901-49delinsAG
NM_001849.4:c.1817-50_1817-49delinsAG MANE Select	NP_001840.3:n.1817-50_1817-49delinsAG
NM_058174.3:c.1817-50_1817-49delinsAG MANE Plus Clinical	NP_478054.2:n.1817-50_1817-49delinsAG
NM_058175.3:c.1817-50_1817-49delinsAG	NP_478055.2:n.1817-50_1817-49delinsAG