Canonical Allele Identifier: CA2392507282

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125406_46125443delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG , CM000683.2:g.46125406_46125443delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	GRCh38
NC_000021.8:g.47545320_47545357delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG , CM000683.1:g.47545320_47545357delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	GRCh37
NC_000021.7:g.46369748_46369785delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	NCBI36
NG_008675.1:g.32288_32325delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG , LRG_476:g.32288_32325delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG MANE Plus Clinical	ENSP00000380870.1:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000300527.9:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG MANE Select	ENSP00000300527.4:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000409416.6:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	ENSP00000387115.1:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000300527.8:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	ENSP00000300527.4:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000310645.9:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	ENSP00000312529.5:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000397763.5:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	ENSP00000380870.1:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000409416.5:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	ENSP00000387115.1:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGG...
ENST00000413758.1:c.440-11_466delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG
NM_001849.3:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG , LRG_476t1:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	NP_001840.3:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCC...
NM_058174.2:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	NP_478054.2:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCC...
NM_058175.2:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	NP_478055.2:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCC...
XM_011529451.1:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	XP_011527753.1:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCT...
XM_011529452.1:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	XP_011527754.1:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCT...
XR_937438.1:n.1894-59_1894-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG
XR_937439.1:n.1894-59_1894-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG
XR_937438.2:n.1901-59_1901-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG
XR_937439.2:n.1901-59_1901-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG
NM_001849.4:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG MANE Select	NP_001840.3:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCC...
NM_058174.3:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG MANE Plus Clinical	NP_478054.2:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCC...
NM_058175.3:c.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCCCGGTACCCCCCG	NP_478055.2:n.1817-59_1817-22delinsCGTGACCCTAGGGTCTGAGGTCTCCC...