Canonical Allele Identifier: CA2573157643

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1463372
• ClinVar RCV Id: RCV001956621
• dbSNP Id: rs2123625716

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115929_46115932del , CM000683.2:g.46115929_46115932del	GRCh38
NC_000021.8:g.47535843_47535846del , CM000683.1:g.47535843_47535846del	GRCh37
NC_000021.7:g.46360271_46360274del	NCBI36
NG_008675.1:g.22811_22814del , LRG_476:g.22811_22814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.855+4_855+7del MANE Plus Clinical	ENSP00000380870.1:n.855+4_855+7del
ENST00000300527.9:c.855+4_855+7del MANE Select	ENSP00000300527.4:n.855+4_855+7del
ENST00000409416.6:c.855+4_855+7del	ENSP00000387115.1:n.855+4_855+7del
ENST00000300527.8:c.855+4_855+7del	ENSP00000300527.4:n.855+4_855+7del
ENST00000310645.9:c.855+4_855+7del	ENSP00000312529.5:n.855+4_855+7del
ENST00000397763.5:c.855+4_855+7del	ENSP00000380870.1:n.855+4_855+7del
ENST00000409416.5:c.855+4_855+7del	ENSP00000387115.1:n.855+4_855+7del
ENST00000485591.1:n.511+4_511+7del
NM_001849.3:c.855+4_855+7del , LRG_476t1:c.855+4_855+7del	NP_001840.3:n.855+4_855+7del
NM_058174.2:c.855+4_855+7del	NP_478054.2:n.855+4_855+7del
NM_058175.2:c.855+4_855+7del	NP_478055.2:n.855+4_855+7del
XM_011529451.1:c.855+4_855+7del	XP_011527753.1:n.855+4_855+7del
XM_011529452.1:c.855+4_855+7del	XP_011527754.1:n.855+4_855+7del
XR_937438.1:n.978+4_978+7del
XR_937439.1:n.978+4_978+7del
XR_937438.2:n.985+4_985+7del
XR_937439.2:n.985+4_985+7del
NM_001849.4:c.855+4_855+7del MANE Select	NP_001840.3:n.855+4_855+7del
NM_058174.3:c.855+4_855+7del MANE Plus Clinical	NP_478054.2:n.855+4_855+7del
NM_058175.3:c.855+4_855+7del	NP_478055.2:n.855+4_855+7del