Canonical Allele Identifier: CA2654969113

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46115831-CACCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115837_46115841del , CM000683.2:g.46115837_46115841del	GRCh38
NC_000021.8:g.47535751_47535755del , CM000683.1:g.47535751_47535755del	GRCh37
NC_000021.7:g.46360179_46360183del	NCBI36
NG_008675.1:g.22719_22723del , LRG_476:g.22719_22723del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397763.6:c.802-35_802-31del MANE Plus Clinical	ENSP00000380870.1:n.802-35_802-31del
ENST00000300527.9:c.802-35_802-31del MANE Select	ENSP00000300527.4:n.802-35_802-31del
ENST00000409416.6:c.802-35_802-31del	ENSP00000387115.1:n.802-35_802-31del
ENST00000300527.8:c.802-35_802-31del	ENSP00000300527.4:n.802-35_802-31del
ENST00000310645.9:c.802-35_802-31del	ENSP00000312529.5:n.802-35_802-31del
ENST00000397763.5:c.802-35_802-31del	ENSP00000380870.1:n.802-35_802-31del
ENST00000409416.5:c.802-35_802-31del	ENSP00000387115.1:n.802-35_802-31del
ENST00000485591.1:n.458-35_458-31del
NM_001849.3:c.802-35_802-31del , LRG_476t1:c.802-35_802-31del	NP_001840.3:n.802-35_802-31del
NM_058174.2:c.802-35_802-31del	NP_478054.2:n.802-35_802-31del
NM_058175.2:c.802-35_802-31del	NP_478055.2:n.802-35_802-31del
XM_011529451.1:c.802-35_802-31del	XP_011527753.1:n.802-35_802-31del
XM_011529452.1:c.802-35_802-31del	XP_011527754.1:n.802-35_802-31del
XR_937438.1:n.925-35_925-31del
XR_937439.1:n.925-35_925-31del
XR_937438.2:n.932-35_932-31del
XR_937439.2:n.932-35_932-31del
NM_001849.4:c.802-35_802-31del MANE Select	NP_001840.3:n.802-35_802-31del
NM_058174.3:c.802-35_802-31del MANE Plus Clinical	NP_478054.2:n.802-35_802-31del
NM_058175.3:c.802-35_802-31del	NP_478055.2:n.802-35_802-31del