Canonical Allele Identifier: CA257730

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 17168
• ClinVar RCV Id: RCV000653500 ; RCV000710888 ; RCV001138981 ; RCV001138980 ; RCV003764604
• dbSNP Id: rs267606749
• ExAC: 21:47541504 G / A
• gnomAD v2: 21-47541504-G-A
• gnomAD v3: 21-46121590-G-A
• gnomAD v4: 21-46121590-G-A
• MyVariant Identifiers: chr21:g.47541504G>A (hg19) ; chr21:g.46121590G>A (hg38)
• PubMed: PMID:19564581

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121590G>A , CM000683.2:g.46121590G>A	GRCh38
NC_000021.8:g.47541504G>A , CM000683.1:g.47541504G>A	GRCh37
NC_000021.7:g.46365932G>A	NCBI36
NG_008675.1:g.28472G>A , LRG_476:g.28472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1493G>A MANE Plus Clinical	ENSP00000380870.1:p.Arg498His
ENST00000300527.9:c.1493G>A MANE Select	ENSP00000300527.4:p.Arg498His
ENST00000409416.6:c.1493G>A	ENSP00000387115.1:p.Arg498His
ENST00000300527.8:c.1493G>A	ENSP00000300527.4:p.Arg498His
ENST00000310645.9:c.1493G>A	ENSP00000312529.5:p.Arg498His
ENST00000397763.5:c.1493G>A	ENSP00000380870.1:p.Arg498His
ENST00000409416.5:c.1493G>A	ENSP00000387115.1:p.Arg498His
ENST00000413758.1:c.116G>A	ENSP00000395751.1:p.Arg39His
NM_001849.3:c.1493G>A , LRG_476t1:c.1493G>A	NP_001840.3:p.Arg498His
NM_058174.2:c.1493G>A	NP_478054.2:p.Arg498His
NM_058175.2:c.1493G>A	NP_478055.2:p.Arg498His
XM_011529451.1:c.1493G>A	XP_011527753.1:p.Arg498His
XM_011529452.1:c.1493G>A	XP_011527754.1:p.Arg498His
XR_937438.1:n.1616G>A
XR_937439.1:n.1616G>A
XR_937438.2:n.1623G>A
XR_937439.2:n.1623G>A
NM_001849.4:c.1493G>A MANE Select	NP_001840.3:p.Arg498His
NM_058174.3:c.1493G>A MANE Plus Clinical	NP_478054.2:p.Arg498His
NM_058175.3:c.1493G>A	NP_478055.2:p.Arg498His