Canonical Allele Identifier: CA658799473

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 500904
• ClinVar RCV Id: RCV000593616 ; RCV001054019
• dbSNP Id: rs1555872819
• MyVariant Identifiers: chr21:g.47535814del (hg19) ; chr21:g.46115900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46115900del , CM000683.2:g.46115900del	GRCh38
NC_000021.8:g.47535814del , CM000683.1:g.47535814del	GRCh37
NC_000021.7:g.46360242del	NCBI36
NG_008675.1:g.22782del , LRG_476:g.22782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.830del MANE Plus Clinical	ENSP00000380870.1:p.Gly277GlufsTer?
ENST00000300527.9:c.830del MANE Select	ENSP00000300527.4:p.Gly277GlufsTer?
ENST00000409416.6:c.830del	ENSP00000387115.1:p.Gly277GlufsTer?
ENST00000300527.8:c.830del	ENSP00000300527.4:p.Gly277GlufsTer?
ENST00000310645.9:c.830del	ENSP00000312529.5:p.Gly277GlufsTer?
ENST00000397763.5:c.830del	ENSP00000380870.1:p.Gly277GlufsTer?
ENST00000409416.5:c.830del	ENSP00000387115.1:p.Gly277GlufsTer?
ENST00000485591.1:n.486del
NM_001849.3:c.830del , LRG_476t1:c.830del	NP_001840.3:p.Gly277GlufsTer?
NM_058174.2:c.830del	NP_478054.2:p.Gly277GlufsTer?
NM_058175.2:c.830del	NP_478055.2:p.Gly277GlufsTer?
XM_011529451.1:c.830del	XP_011527753.1:p.Gly277GlufsTer?
XM_011529452.1:c.830del	XP_011527754.1:p.Gly277GlufsTer?
XR_937438.1:n.953del
XR_937439.1:n.953del
XR_937438.2:n.960del
XR_937439.2:n.960del
NM_001849.4:c.830del MANE Select	NP_001840.3:p.Gly277GlufsTer?
NM_058174.3:c.830del MANE Plus Clinical	NP_478054.2:p.Gly277GlufsTer?
NM_058175.3:c.830del	NP_478055.2:p.Gly277GlufsTer?