Canonical Allele Identifier: CA242946

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 196119
• ClinVar RCV Id: RCV000176863 ; RCV000416019 ; RCV001082268 ; RCV001143620 ; RCV004539642
• dbSNP Id: rs141233891
• ExAC: 21:47552089 A / C
• gnomAD v2: 21-47552089-A-C
• gnomAD v3: 21-46132175-A-C
• gnomAD v4: 21-46132175-A-C
• MyVariant Identifiers: chr21:g.47552089A>C (hg19) ; chr21:g.46132175A>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132175A>C , CM000683.2:g.46132175A>C	GRCh38
NC_000021.8:g.47552089A>C , CM000683.1:g.47552089A>C	GRCh37
NC_000021.7:g.46376517A>C	NCBI36
NG_008675.1:g.39057A>C , LRG_476:g.39057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2683A>C MANE Select	ENSP00000300527.4:p.Ser895Arg
ENST00000300527.8:c.2683A>C	ENSP00000300527.4:p.Ser895Arg
NM_001849.3:c.2683A>C , LRG_476t1:c.2683A>C	NP_001840.3:p.Ser895Arg
XM_011529451.1:c.2683A>C	XP_011527753.1:p.Ser895Arg
XM_011529452.1:c.2683A>C	XP_011527754.1:p.Ser895Arg
XR_937438.1:n.2760A>C
XR_937438.2:n.2767A>C
NM_001849.4:c.2683A>C MANE Select	NP_001840.3:p.Ser895Arg