Canonical Allele Identifier: CA2654969119

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46115848-A-ATGTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115850_46115854dup , CM000683.2:g.46115850_46115854dup	GRCh38
NC_000021.8:g.47535764_47535768dup , CM000683.1:g.47535764_47535768dup	GRCh37
NC_000021.7:g.46360192_46360196dup	NCBI36
NG_008675.1:g.22732_22736dup , LRG_476:g.22732_22736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.802-22_802-18dup MANE Plus Clinical	ENSP00000380870.1:n.802-22_802-18dup
ENST00000300527.9:c.802-22_802-18dup MANE Select	ENSP00000300527.4:n.802-22_802-18dup
ENST00000409416.6:c.802-22_802-18dup	ENSP00000387115.1:n.802-22_802-18dup
ENST00000300527.8:c.802-22_802-18dup	ENSP00000300527.4:n.802-22_802-18dup
ENST00000310645.9:c.802-22_802-18dup	ENSP00000312529.5:n.802-22_802-18dup
ENST00000397763.5:c.802-22_802-18dup	ENSP00000380870.1:n.802-22_802-18dup
ENST00000409416.5:c.802-22_802-18dup	ENSP00000387115.1:n.802-22_802-18dup
ENST00000485591.1:n.458-22_458-18dup
NM_001849.3:c.802-22_802-18dup , LRG_476t1:c.802-22_802-18dup	NP_001840.3:n.802-22_802-18dup
NM_058174.2:c.802-22_802-18dup	NP_478054.2:n.802-22_802-18dup
NM_058175.2:c.802-22_802-18dup	NP_478055.2:n.802-22_802-18dup
XM_011529451.1:c.802-22_802-18dup	XP_011527753.1:n.802-22_802-18dup
XM_011529452.1:c.802-22_802-18dup	XP_011527754.1:n.802-22_802-18dup
XR_937438.1:n.925-22_925-18dup
XR_937439.1:n.925-22_925-18dup
XR_937438.2:n.932-22_932-18dup
XR_937439.2:n.932-22_932-18dup
NM_001849.4:c.802-22_802-18dup MANE Select	NP_001840.3:n.802-22_802-18dup
NM_058174.3:c.802-22_802-18dup MANE Plus Clinical	NP_478054.2:n.802-22_802-18dup
NM_058175.3:c.802-22_802-18dup	NP_478055.2:n.802-22_802-18dup