Canonical Allele Identifier: CA2580098916

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 1991990
• ClinVar RCV Id: RCV002814264

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125908_46125909delinsTA , CM000683.2:g.46125908_46125909delinsTA	GRCh38
NC_000021.8:g.47545822_47545823delinsTA , CM000683.1:g.47545822_47545823delinsTA	GRCh37
NC_000021.7:g.46370250_46370251delinsTA	NCBI36
NG_008675.1:g.32790_32791delinsTA , LRG_476:g.32790_32791delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2093_2094delinsTA MANE Plus Clinical	ENSP00000380870.1:p.Ala698Val
ENST00000300527.9:c.2093_2094delinsTA MANE Select	ENSP00000300527.4:p.Ala698Val
ENST00000409416.6:c.2093_2094delinsTA	ENSP00000387115.1:p.Ala698Val
ENST00000300527.8:c.2093_2094delinsTA	ENSP00000300527.4:p.Ala698Val
ENST00000310645.9:c.2093_2094delinsTA	ENSP00000312529.5:p.Ala698Val
ENST00000397763.5:c.2093_2094delinsTA	ENSP00000380870.1:p.Ala698Val
ENST00000409416.5:c.2093_2094delinsTA	ENSP00000387115.1:p.Ala698Val
NM_001849.3:c.2093_2094delinsTA , LRG_476t1:c.2093_2094delinsTA	NP_001840.3:p.Ala698Val
NM_058174.2:c.2093_2094delinsTA	NP_478054.2:p.Ala698Val
NM_058175.2:c.2093_2094delinsTA	NP_478055.2:p.Ala698Val
XM_011529451.1:c.2093_2094delinsTA	XP_011527753.1:p.Ala698Val
XM_011529452.1:c.2093_2094delinsTA	XP_011527754.1:p.Ala698Val
XR_937438.1:n.2170_2171delinsTA
XR_937439.1:n.2170_2171delinsTA
XR_937438.2:n.2177_2178delinsTA
XR_937439.2:n.2177_2178delinsTA
NM_001849.4:c.2093_2094delinsTA MANE Select	NP_001840.3:p.Ala698Val
NM_058174.3:c.2093_2094delinsTA MANE Plus Clinical	NP_478054.2:p.Ala698Val
NM_058175.3:c.2093_2094delinsTA	NP_478055.2:p.Ala698Val