Canonical Allele Identifier: CA2392499633

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114294_46114296delinsATG , CM000683.2:g.46114294_46114296delinsATG	GRCh38
NC_000021.8:g.47534208_47534210delinsATG , CM000683.1:g.47534208_47534210delinsATG	GRCh37
NC_000021.7:g.46358636_46358638delinsATG	NCBI36
NG_008675.1:g.21176_21178delinsATG , LRG_476:g.21176_21178delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+221_801+223delinsATG MANE Plus Clinical	ENSP00000380870.1:n.801+221_801+223delinsATG
ENST00000300527.9:c.801+221_801+223delinsATG MANE Select	ENSP00000300527.4:n.801+221_801+223delinsATG
ENST00000409416.6:c.801+221_801+223delinsATG	ENSP00000387115.1:n.801+221_801+223delinsATG
ENST00000300527.8:c.801+221_801+223delinsATG	ENSP00000300527.4:n.801+221_801+223delinsATG
ENST00000310645.9:c.801+221_801+223delinsATG	ENSP00000312529.5:n.801+221_801+223delinsATG
ENST00000397763.5:c.801+221_801+223delinsATG	ENSP00000380870.1:n.801+221_801+223delinsATG
ENST00000409416.5:c.801+221_801+223delinsATG	ENSP00000387115.1:n.801+221_801+223delinsATG
ENST00000485591.1:n.457+221_457+223delinsATG
NM_001849.3:c.801+221_801+223delinsATG , LRG_476t1:c.801+221_801+223delinsATG	NP_001840.3:n.801+221_801+223delinsATG
NM_058174.2:c.801+221_801+223delinsATG	NP_478054.2:n.801+221_801+223delinsATG
NM_058175.2:c.801+221_801+223delinsATG	NP_478055.2:n.801+221_801+223delinsATG
XM_011529451.1:c.801+221_801+223delinsATG	XP_011527753.1:n.801+221_801+223delinsATG
XM_011529452.1:c.801+221_801+223delinsATG	XP_011527754.1:n.801+221_801+223delinsATG
XR_937438.1:n.924+221_924+223delinsATG
XR_937439.1:n.924+221_924+223delinsATG
XR_937438.2:n.931+221_931+223delinsATG
XR_937439.2:n.931+221_931+223delinsATG
NM_001849.4:c.801+221_801+223delinsATG MANE Select	NP_001840.3:n.801+221_801+223delinsATG
NM_058174.3:c.801+221_801+223delinsATG MANE Plus Clinical	NP_478054.2:n.801+221_801+223delinsATG
NM_058175.3:c.801+221_801+223delinsATG	NP_478055.2:n.801+221_801+223delinsATG