Canonical Allele Identifier: CA10072438

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 285726
• ClinVar RCV Id: RCV000363352 ; RCV000653539 ; RCV001141703
• dbSNP Id: rs377376395
• ExAC: 21:47545812 G / A
• gnomAD v2: 21-47545812-G-A
• gnomAD v3: 21-46125898-G-A
• gnomAD v4: 21-46125898-G-A
• MyVariant Identifiers: chr21:g.47545812G>A (hg19) ; chr21:g.46125898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125898G>A , CM000683.2:g.46125898G>A	GRCh38
NC_000021.8:g.47545812G>A , CM000683.1:g.47545812G>A	GRCh37
NC_000021.7:g.46370240G>A	NCBI36
NG_008675.1:g.32780G>A , LRG_476:g.32780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2083G>A MANE Plus Clinical	ENSP00000380870.1:p.Glu695Lys
ENST00000300527.9:c.2083G>A MANE Select	ENSP00000300527.4:p.Glu695Lys
ENST00000409416.6:c.2083G>A	ENSP00000387115.1:p.Glu695Lys
ENST00000300527.8:c.2083G>A	ENSP00000300527.4:p.Glu695Lys
ENST00000310645.9:c.2083G>A	ENSP00000312529.5:p.Glu695Lys
ENST00000397763.5:c.2083G>A	ENSP00000380870.1:p.Glu695Lys
ENST00000409416.5:c.2083G>A	ENSP00000387115.1:p.Glu695Lys
NM_001849.3:c.2083G>A , LRG_476t1:c.2083G>A	NP_001840.3:p.Glu695Lys
NM_058174.2:c.2083G>A	NP_478054.2:p.Glu695Lys
NM_058175.2:c.2083G>A	NP_478055.2:p.Glu695Lys
XM_011529451.1:c.2083G>A	XP_011527753.1:p.Glu695Lys
XM_011529452.1:c.2083G>A	XP_011527754.1:p.Glu695Lys
XR_937438.1:n.2160G>A
XR_937439.1:n.2160G>A
XR_937438.2:n.2167G>A
XR_937439.2:n.2167G>A
NM_001849.4:c.2083G>A MANE Select	NP_001840.3:p.Glu695Lys
NM_058174.3:c.2083G>A MANE Plus Clinical	NP_478054.2:p.Glu695Lys
NM_058175.3:c.2083G>A	NP_478055.2:p.Glu695Lys