Canonical Allele Identifier: CA410539779

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 2182910
• ClinVar RCV Id: RCV002611087
• dbSNP Id: rs886042884
• gnomAD v2: 21-47545738-C-T
• gnomAD v4: 21-46125824-C-T
• MyVariant Identifiers: chr21:g.47545738C>T (hg19) ; chr21:g.47545738_47545746delinsTCTTTGAGG (hg19) ; chr21:g.46125824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125824C>T , CM000683.2:g.46125824C>T	GRCh38
NC_000021.8:g.47545738C>T , CM000683.1:g.47545738C>T	GRCh37
NC_000021.7:g.46370166C>T	NCBI36
NG_008675.1:g.32706C>T , LRG_476:g.32706C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.2009C>T MANE Plus Clinical	ENSP00000380870.1:p.Thr670Ile
ENST00000300527.9:c.2009C>T MANE Select	ENSP00000300527.4:p.Thr670Ile
ENST00000409416.6:c.2009C>T	ENSP00000387115.1:p.Thr670Ile
ENST00000300527.8:c.2009C>T	ENSP00000300527.4:p.Thr670Ile
ENST00000310645.9:c.2009C>T	ENSP00000312529.5:p.Thr670Ile
ENST00000397763.5:c.2009C>T	ENSP00000380870.1:p.Thr670Ile
ENST00000409416.5:c.2009C>T	ENSP00000387115.1:p.Thr670Ile
ENST00000413758.1:c.680C>T	ENSP00000395751.1:p.Thr227Ile
NM_001849.3:c.2009C>T , LRG_476t1:c.2009C>T	NP_001840.3:p.Thr670Ile
NM_058174.2:c.2009C>T	NP_478054.2:p.Thr670Ile
NM_058175.2:c.2009C>T	NP_478055.2:p.Thr670Ile
XM_011529451.1:c.2009C>T	XP_011527753.1:p.Thr670Ile
XM_011529452.1:c.2009C>T	XP_011527754.1:p.Thr670Ile
XR_937438.1:n.2086C>T
XR_937439.1:n.2086C>T
XR_937438.2:n.2093C>T
XR_937439.2:n.2093C>T
NM_001849.4:c.2009C>T MANE Select	NP_001840.3:p.Thr670Ile
NM_058174.3:c.2009C>T MANE Plus Clinical	NP_478054.2:p.Thr670Ile
NM_058175.3:c.2009C>T	NP_478055.2:p.Thr670Ile