Canonical Allele Identifier: CA2580099010

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1709249
• ClinVar RCV Id: RCV002289064

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115963_46115977del , CM000683.2:g.46115963_46115977del	GRCh38
NC_000021.8:g.47535877_47535891del , CM000683.1:g.47535877_47535891del	GRCh37
NC_000021.7:g.46360305_46360319del	NCBI36
NG_008675.1:g.22845_22859del , LRG_476:g.22845_22859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.855+38_856-32del MANE Plus Clinical	ENSP00000380870.1:n.855+38_856-32del
ENST00000300527.9:c.855+38_856-32del MANE Select	ENSP00000300527.4:n.855+38_856-32del
ENST00000409416.6:c.855+38_856-32del	ENSP00000387115.1:n.855+38_856-32del
ENST00000300527.8:c.855+38_856-32del	ENSP00000300527.4:n.855+38_856-32del
ENST00000310645.9:c.855+38_856-32del	ENSP00000312529.5:n.855+38_856-32del
ENST00000397763.5:c.855+38_856-32del	ENSP00000380870.1:n.855+38_856-32del
ENST00000409416.5:c.855+38_856-32del	ENSP00000387115.1:n.855+38_856-32del
ENST00000485591.1:n.511+38_512-32del
NM_001849.3:c.855+38_856-32del , LRG_476t1:c.855+38_856-32del	NP_001840.3:n.855+38_856-32del
NM_058174.2:c.855+38_856-32del	NP_478054.2:n.855+38_856-32del
NM_058175.2:c.855+38_856-32del	NP_478055.2:n.855+38_856-32del
XM_011529451.1:c.855+38_856-32del	XP_011527753.1:n.855+38_856-32del
XM_011529452.1:c.855+38_856-32del	XP_011527754.1:n.855+38_856-32del
XR_937438.1:n.978+38_979-32del
XR_937439.1:n.978+38_979-32del
XR_937438.2:n.985+38_986-32del
XR_937439.2:n.985+38_986-32del
NM_001849.4:c.855+38_856-32del MANE Select	NP_001840.3:n.855+38_856-32del
NM_058174.3:c.855+38_856-32del MANE Plus Clinical	NP_478054.2:n.855+38_856-32del
NM_058175.3:c.855+38_856-32del	NP_478055.2:n.855+38_856-32del