Canonical Allele Identifier: CA10072417

Gene: COL6A2

Linked Data

• dbSNP Id: rs765722770
• ExAC: 21:47545759 A / AT
• gnomAD v2: 21-47545759-A-AT
• gnomAD v4: 21-46125845-A-AT
• MyVariant Identifiers: chr21:g.47545759_47545760insT (hg19) ; chr21:g.46125845_46125846insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125845_46125846insT , CM000683.2:g.46125845_46125846insT	GRCh38
NC_000021.8:g.47545759_47545760insT , CM000683.1:g.47545759_47545760insT	GRCh37
NC_000021.7:g.46370187_46370188insT	NCBI36
NG_008675.1:g.32727_32728insT , LRG_476:g.32727_32728insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2030_2031insT MANE Plus Clinical	ENSP00000380870.1:p.Asp678ArgfsTer?
ENST00000300527.9:c.2030_2031insT MANE Select	ENSP00000300527.4:p.Asp678ArgfsTer?
ENST00000409416.6:c.2030_2031insT	ENSP00000387115.1:p.Asp678ArgfsTer?
ENST00000300527.8:c.2030_2031insT	ENSP00000300527.4:p.Asp678ArgfsTer?
ENST00000310645.9:c.2030_2031insT	ENSP00000312529.5:p.Asp678ArgfsTer?
ENST00000397763.5:c.2030_2031insT	ENSP00000380870.1:p.Asp678ArgfsTer?
ENST00000409416.5:c.2030_2031insT	ENSP00000387115.1:p.Asp678ArgfsTer?
ENST00000413758.1:c.701_702insT	ENSP00000395751.1:p.Asp235ArgfsTer?
NM_001849.3:c.2030_2031insT , LRG_476t1:c.2030_2031insT	NP_001840.3:p.Asp678ArgfsTer?
NM_058174.2:c.2030_2031insT	NP_478054.2:p.Asp678ArgfsTer?
NM_058175.2:c.2030_2031insT	NP_478055.2:p.Asp678ArgfsTer?
XM_011529451.1:c.2030_2031insT	XP_011527753.1:p.Asp678ArgfsTer?
XM_011529452.1:c.2030_2031insT	XP_011527754.1:p.Asp678ArgfsTer?
XR_937438.1:n.2107_2108insT
XR_937439.1:n.2107_2108insT
XR_937438.2:n.2114_2115insT
XR_937439.2:n.2114_2115insT
NM_001849.4:c.2030_2031insT MANE Select	NP_001840.3:p.Asp678ArgfsTer?
NM_058174.3:c.2030_2031insT MANE Plus Clinical	NP_478054.2:p.Asp678ArgfsTer?
NM_058175.3:c.2030_2031insT	NP_478055.2:p.Asp678ArgfsTer?