Canonical Allele Identifier: CA2654969039

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46115778-T-TTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115778_46115779insTGG , CM000683.2:g.46115778_46115779insTGG	GRCh38
NC_000021.8:g.47535692_47535693insTGG , CM000683.1:g.47535692_47535693insTGG	GRCh37
NC_000021.7:g.46360120_46360121insTGG	NCBI36
NG_008675.1:g.22660_22661insTGG , LRG_476:g.22660_22661insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.802-94_802-93insTGG MANE Plus Clinical	ENSP00000380870.1:n.802-94_802-93insTGG
ENST00000300527.9:c.802-94_802-93insTGG MANE Select	ENSP00000300527.4:n.802-94_802-93insTGG
ENST00000409416.6:c.802-94_802-93insTGG	ENSP00000387115.1:n.802-94_802-93insTGG
ENST00000300527.8:c.802-94_802-93insTGG	ENSP00000300527.4:n.802-94_802-93insTGG
ENST00000310645.9:c.802-94_802-93insTGG	ENSP00000312529.5:n.802-94_802-93insTGG
ENST00000397763.5:c.802-94_802-93insTGG	ENSP00000380870.1:n.802-94_802-93insTGG
ENST00000409416.5:c.802-94_802-93insTGG	ENSP00000387115.1:n.802-94_802-93insTGG
ENST00000485591.1:n.458-94_458-93insTGG
NM_001849.3:c.802-94_802-93insTGG , LRG_476t1:c.802-94_802-93insTGG	NP_001840.3:n.802-94_802-93insTGG
NM_058174.2:c.802-94_802-93insTGG	NP_478054.2:n.802-94_802-93insTGG
NM_058175.2:c.802-94_802-93insTGG	NP_478055.2:n.802-94_802-93insTGG
XM_011529451.1:c.802-94_802-93insTGG	XP_011527753.1:n.802-94_802-93insTGG
XM_011529452.1:c.802-94_802-93insTGG	XP_011527754.1:n.802-94_802-93insTGG
XR_937438.1:n.925-94_925-93insTGG
XR_937439.1:n.925-94_925-93insTGG
XR_937438.2:n.932-94_932-93insTGG
XR_937439.2:n.932-94_932-93insTGG
NM_001849.4:c.802-94_802-93insTGG MANE Select	NP_001840.3:n.802-94_802-93insTGG
NM_058174.3:c.802-94_802-93insTGG MANE Plus Clinical	NP_478054.2:n.802-94_802-93insTGG
NM_058175.3:c.802-94_802-93insTGG	NP_478055.2:n.802-94_802-93insTGG