Canonical Allele Identifier: CA2577629222

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46114104-C-CAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114104_46114105insAGG , CM000683.2:g.46114104_46114105insAGG	GRCh38
NC_000021.8:g.47534018_47534019insAGG , CM000683.1:g.47534018_47534019insAGG	GRCh37
NC_000021.7:g.46358446_46358447insAGG	NCBI36
NG_008675.1:g.20986_20987insAGG , LRG_476:g.20986_20987insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+31_801+32insAGG MANE Plus Clinical	ENSP00000380870.1:n.801+31_801+32insAGG
ENST00000300527.9:c.801+31_801+32insAGG MANE Select	ENSP00000300527.4:n.801+31_801+32insAGG
ENST00000409416.6:c.801+31_801+32insAGG	ENSP00000387115.1:n.801+31_801+32insAGG
ENST00000300527.8:c.801+31_801+32insAGG	ENSP00000300527.4:n.801+31_801+32insAGG
ENST00000310645.9:c.801+31_801+32insAGG	ENSP00000312529.5:n.801+31_801+32insAGG
ENST00000397763.5:c.801+31_801+32insAGG	ENSP00000380870.1:n.801+31_801+32insAGG
ENST00000409416.5:c.801+31_801+32insAGG	ENSP00000387115.1:n.801+31_801+32insAGG
ENST00000485591.1:n.457+31_457+32insAGG
NM_001849.3:c.801+31_801+32insAGG , LRG_476t1:c.801+31_801+32insAGG	NP_001840.3:n.801+31_801+32insAGG
NM_058174.2:c.801+31_801+32insAGG	NP_478054.2:n.801+31_801+32insAGG
NM_058175.2:c.801+31_801+32insAGG	NP_478055.2:n.801+31_801+32insAGG
XM_011529451.1:c.801+31_801+32insAGG	XP_011527753.1:n.801+31_801+32insAGG
XM_011529452.1:c.801+31_801+32insAGG	XP_011527754.1:n.801+31_801+32insAGG
XR_937438.1:n.924+31_924+32insAGG
XR_937439.1:n.924+31_924+32insAGG
XR_937438.2:n.931+31_931+32insAGG
XR_937439.2:n.931+31_931+32insAGG
NM_001849.4:c.801+31_801+32insAGG MANE Select	NP_001840.3:n.801+31_801+32insAGG
NM_058174.3:c.801+31_801+32insAGG MANE Plus Clinical	NP_478054.2:n.801+31_801+32insAGG
NM_058175.3:c.801+31_801+32insAGG	NP_478055.2:n.801+31_801+32insAGG