Canonical Allele Identifier: CA10072904

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 287934
• ClinVar RCV Id: RCV000357521 ; RCV000778643 ; RCV001059137 ; RCV003338507
• dbSNP Id: rs373072443
• ExAC: 21:47551894 C / T
• gnomAD v2: 21-47551894-C-T
• gnomAD v3: 21-46131980-C-T
• gnomAD v4: 21-46131980-C-T
• MyVariant Identifiers: chr21:g.47551894C>T (hg19) ; chr21:g.46131980C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46131980C>T , CM000683.2:g.46131980C>T	GRCh38
NC_000021.8:g.47551894C>T , CM000683.1:g.47551894C>T	GRCh37
NC_000021.7:g.46376322C>T	NCBI36
NG_008675.1:g.38862C>T , LRG_476:g.38862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2488C>T MANE Select	ENSP00000300527.4:p.Arg830Trp
ENST00000300527.8:c.2488C>T	ENSP00000300527.4:p.Arg830Trp
NM_001849.3:c.2488C>T , LRG_476t1:c.2488C>T	NP_001840.3:p.Arg830Trp
XM_011529451.1:c.2488C>T	XP_011527753.1:p.Arg830Trp
XM_011529452.1:c.2488C>T	XP_011527754.1:p.Arg830Trp
XR_937438.1:n.2565C>T
XR_937438.2:n.2572C>T
NM_001849.4:c.2488C>T MANE Select	NP_001840.3:p.Arg830Trp