Canonical Allele Identifier: CA2392499320

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113735_46113736delinsTA , CM000683.2:g.46113735_46113736delinsTA	GRCh38
NC_000021.8:g.47533649_47533650delinsTA , CM000683.1:g.47533649_47533650delinsTA	GRCh37
NC_000021.7:g.46358077_46358078delinsTA	NCBI36
NG_008675.1:g.20617_20618delinsTA , LRG_476:g.20617_20618delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-273_736-272delinsTA MANE Plus Clinical	ENSP00000380870.1:n.736-273_736-272delinsTA
ENST00000300527.9:c.736-273_736-272delinsTA MANE Select	ENSP00000300527.4:n.736-273_736-272delinsTA
ENST00000409416.6:c.736-273_736-272delinsTA	ENSP00000387115.1:n.736-273_736-272delinsTA
ENST00000300527.8:c.736-273_736-272delinsTA	ENSP00000300527.4:n.736-273_736-272delinsTA
ENST00000310645.9:c.736-273_736-272delinsTA	ENSP00000312529.5:n.736-273_736-272delinsTA
ENST00000397763.5:c.736-273_736-272delinsTA	ENSP00000380870.1:n.736-273_736-272delinsTA
ENST00000409416.5:c.736-273_736-272delinsTA	ENSP00000387115.1:n.736-273_736-272delinsTA
ENST00000485591.1:n.119_120delinsTA
NM_001849.3:c.736-273_736-272delinsTA , LRG_476t1:c.736-273_736-272delinsTA	NP_001840.3:n.736-273_736-272delinsTA
NM_058174.2:c.736-273_736-272delinsTA	NP_478054.2:n.736-273_736-272delinsTA
NM_058175.2:c.736-273_736-272delinsTA	NP_478055.2:n.736-273_736-272delinsTA
XM_011529451.1:c.736-273_736-272delinsTA	XP_011527753.1:n.736-273_736-272delinsTA
XM_011529452.1:c.736-273_736-272delinsTA	XP_011527754.1:n.736-273_736-272delinsTA
XR_937438.1:n.859-273_859-272delinsTA
XR_937439.1:n.859-273_859-272delinsTA
XR_937438.2:n.866-273_866-272delinsTA
XR_937439.2:n.866-273_866-272delinsTA
NM_001849.4:c.736-273_736-272delinsTA MANE Select	NP_001840.3:n.736-273_736-272delinsTA
NM_058174.3:c.736-273_736-272delinsTA MANE Plus Clinical	NP_478054.2:n.736-273_736-272delinsTA
NM_058175.3:c.736-273_736-272delinsTA	NP_478055.2:n.736-273_736-272delinsTA