Canonical Allele Identifier: CA10072290

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 282237
• ClinVar RCV Id: RCV000341803 ; RCV000370342 ; RCV000382289 ; RCV001518907
• dbSNP Id: rs149954350
• ExAC: 21:47545369 AC / A
• gnomAD v2: 21-47545369-AC-A
• gnomAD v3: 21-46125455-AC-A
• gnomAD v4: 21-46125455-AC-A
• MyVariant Identifiers: chr21:g.47545376del (hg19) ; chr21:g.47545370del (hg19) ; chr21:g.46125462del (hg38) ; chr21:g.46125456del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125462del , CM000683.2:g.46125462del	GRCh38
NC_000021.8:g.47545376del , CM000683.1:g.47545376del	GRCh37
NC_000021.7:g.46369804del	NCBI36
NG_008675.1:g.32344del , LRG_476:g.32344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1817-3del MANE Plus Clinical	ENSP00000380870.1:n.1817-3del
ENST00000300527.9:c.1817-3del MANE Select	ENSP00000300527.4:n.1817-3del
ENST00000409416.6:c.1817-3del	ENSP00000387115.1:n.1817-3del
ENST00000300527.8:c.1817-3del	ENSP00000300527.4:n.1817-3del
ENST00000310645.9:c.1817-3del	ENSP00000312529.5:n.1817-3del
ENST00000397763.5:c.1817-3del	ENSP00000380870.1:n.1817-3del
ENST00000409416.5:c.1817-3del	ENSP00000387115.1:n.1817-3del
ENST00000413758.1:c.485del	ENSP00000395751.1:p.Pro162GlnfsTer?
NM_001849.3:c.1817-3del , LRG_476t1:c.1817-3del	NP_001840.3:n.1817-3del
NM_058174.2:c.1817-3del	NP_478054.2:n.1817-3del
NM_058175.2:c.1817-3del	NP_478055.2:n.1817-3del
XM_011529451.1:c.1817-3del	XP_011527753.1:n.1817-3del
XM_011529452.1:c.1817-3del	XP_011527754.1:n.1817-3del
XR_937438.1:n.1894-3del
XR_937439.1:n.1894-3del
XR_937438.2:n.1901-3del
XR_937439.2:n.1901-3del
NM_001849.4:c.1817-3del MANE Select	NP_001840.3:n.1817-3del
NM_058174.3:c.1817-3del MANE Plus Clinical	NP_478054.2:n.1817-3del
NM_058175.3:c.1817-3del	NP_478055.2:n.1817-3del