Canonical Allele Identifier: CA10073082

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 283255
• ClinVar RCV Id: RCV000363837 ; RCV000653524 ; RCV001141920 ; RCV003338498
• dbSNP Id: rs201188174
• ExAC: 21:47552299 C / T
• gnomAD v2: 21-47552299-C-T
• gnomAD v3: 21-46132385-C-T
• gnomAD v4: 21-46132385-C-T
• COSMIC: COSM4102177
• MyVariant Identifiers: chr21:g.47552299C>T (hg19) ; chr21:g.46132385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132385C>T , CM000683.2:g.46132385C>T	GRCh38
NC_000021.8:g.47552299C>T , CM000683.1:g.47552299C>T	GRCh37
NC_000021.7:g.46376727C>T	NCBI36
NG_008675.1:g.39267C>T , LRG_476:g.39267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2893C>T MANE Select	ENSP00000300527.4:p.Arg965Cys
ENST00000300527.8:c.2893C>T	ENSP00000300527.4:p.Arg965Cys
NM_001849.3:c.2893C>T , LRG_476t1:c.2893C>T	NP_001840.3:p.Arg965Cys
XM_011529451.1:c.2893C>T	XP_011527753.1:p.Arg965Cys
XM_011529452.1:c.2893C>T	XP_011527754.1:p.Arg965Cys
XR_937438.1:n.2970C>T
XR_937438.2:n.2977C>T
NM_001849.4:c.2893C>T MANE Select	NP_001840.3:p.Arg965Cys