Canonical Allele Identifier: CA2392504386

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121894_46121896delinsCGT , CM000683.2:g.46121894_46121896delinsCGT	GRCh38
NC_000021.8:g.47541808_47541810delinsCGT , CM000683.1:g.47541808_47541810delinsCGT	GRCh37
NC_000021.7:g.46366236_46366238delinsCGT	NCBI36
NG_008675.1:g.28776_28778delinsCGT , LRG_476:g.28776_28778delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1522-214_1522-212delinsCGT MANE Plus Clinical	ENSP00000380870.1:n.1522-214_1522-212delinsCGT
ENST00000300527.9:c.1522-214_1522-212delinsCGT MANE Select	ENSP00000300527.4:n.1522-214_1522-212delinsCGT
ENST00000409416.6:c.1522-214_1522-212delinsCGT	ENSP00000387115.1:n.1522-214_1522-212delinsCGT
ENST00000300527.8:c.1522-214_1522-212delinsCGT	ENSP00000300527.4:n.1522-214_1522-212delinsCGT
ENST00000310645.9:c.1522-214_1522-212delinsCGT	ENSP00000312529.5:n.1522-214_1522-212delinsCGT
ENST00000397763.5:c.1522-214_1522-212delinsCGT	ENSP00000380870.1:n.1522-214_1522-212delinsCGT
ENST00000409416.5:c.1522-214_1522-212delinsCGT	ENSP00000387115.1:n.1522-214_1522-212delinsCGT
ENST00000413758.1:c.145-214_145-212delinsCGT	ENSP00000395751.1:n.145-214_145-212delinsCGT
NM_001849.3:c.1522-214_1522-212delinsCGT , LRG_476t1:c.1522-214_1522-212delinsCGT	NP_001840.3:n.1522-214_1522-212delinsCGT
NM_058174.2:c.1522-214_1522-212delinsCGT	NP_478054.2:n.1522-214_1522-212delinsCGT
NM_058175.2:c.1522-214_1522-212delinsCGT	NP_478055.2:n.1522-214_1522-212delinsCGT
XM_011529451.1:c.1522-214_1522-212delinsCGT	XP_011527753.1:n.1522-214_1522-212delinsCGT
XM_011529452.1:c.1522-214_1522-212delinsCGT	XP_011527754.1:n.1522-214_1522-212delinsCGT
XR_937438.1:n.1645-214_1645-212delinsCGT
XR_937439.1:n.1645-214_1645-212delinsCGT
XR_937438.2:n.1652-214_1652-212delinsCGT
XR_937439.2:n.1652-214_1652-212delinsCGT
NM_001849.4:c.1522-214_1522-212delinsCGT MANE Select	NP_001840.3:n.1522-214_1522-212delinsCGT
NM_058174.3:c.1522-214_1522-212delinsCGT MANE Plus Clinical	NP_478054.2:n.1522-214_1522-212delinsCGT
NM_058175.3:c.1522-214_1522-212delinsCGT	NP_478055.2:n.1522-214_1522-212delinsCGT