Canonical Allele Identifier: CA321967774

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 680233
• ClinVar RCV Id: RCV000839979
• dbSNP Id: rs113533729
• gnomAD v2: 21-47541823-C-CT
• gnomAD v3: 21-46121909-C-CT
• gnomAD v4: 21-46121909-C-CT
• MyVariant Identifiers: chr21:g.47541823_47541824insT (hg19) ; chr21:g.46121909_46121910insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121909_46121910insT , CM000683.2:g.46121909_46121910insT	GRCh38
NC_000021.8:g.47541823_47541824insT , CM000683.1:g.47541823_47541824insT	GRCh37
NC_000021.7:g.46366251_46366252insT	NCBI36
NG_008675.1:g.28791_28792insT , LRG_476:g.28791_28792insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1522-199_1522-198insT MANE Plus Clinical	ENSP00000380870.1:n.1522-199_1522-198insT
ENST00000300527.9:c.1522-199_1522-198insT MANE Select	ENSP00000300527.4:n.1522-199_1522-198insT
ENST00000409416.6:c.1522-199_1522-198insT	ENSP00000387115.1:n.1522-199_1522-198insT
ENST00000300527.8:c.1522-199_1522-198insT	ENSP00000300527.4:n.1522-199_1522-198insT
ENST00000310645.9:c.1522-199_1522-198insT	ENSP00000312529.5:n.1522-199_1522-198insT
ENST00000397763.5:c.1522-199_1522-198insT	ENSP00000380870.1:n.1522-199_1522-198insT
ENST00000409416.5:c.1522-199_1522-198insT	ENSP00000387115.1:n.1522-199_1522-198insT
ENST00000413758.1:c.145-199_145-198insT	ENSP00000395751.1:n.145-199_145-198insT
NM_001849.3:c.1522-199_1522-198insT , LRG_476t1:c.1522-199_1522-198insT	NP_001840.3:n.1522-199_1522-198insT
NM_058174.2:c.1522-199_1522-198insT	NP_478054.2:n.1522-199_1522-198insT
NM_058175.2:c.1522-199_1522-198insT	NP_478055.2:n.1522-199_1522-198insT
XM_011529451.1:c.1522-199_1522-198insT	XP_011527753.1:n.1522-199_1522-198insT
XM_011529452.1:c.1522-199_1522-198insT	XP_011527754.1:n.1522-199_1522-198insT
XR_937438.1:n.1645-199_1645-198insT
XR_937439.1:n.1645-199_1645-198insT
XR_937438.2:n.1652-199_1652-198insT
XR_937439.2:n.1652-199_1652-198insT
NM_001849.4:c.1522-199_1522-198insT MANE Select	NP_001840.3:n.1522-199_1522-198insT
NM_058174.3:c.1522-199_1522-198insT MANE Plus Clinical	NP_478054.2:n.1522-199_1522-198insT
NM_058175.3:c.1522-199_1522-198insT	NP_478055.2:n.1522-199_1522-198insT