Canonical Allele Identifier: CA147481

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 93945
• ClinVar RCV Id: RCV000079884 ; RCV000289634 ; RCV000348436 ; RCV000386615 ; RCV000710897 ; RCV001521303
• dbSNP Id: rs9977394
• ExAC: 21:47552130 A / G
• gnomAD v2: 21-47552130-A-G
• gnomAD v3: 21-46132216-A-G
• gnomAD v4: 21-46132216-A-G
• MyVariant Identifiers: chr21:g.47552130A>G (hg19) ; chr21:g.46132216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132216A>G , CM000683.2:g.46132216A>G	GRCh38
NC_000021.8:g.47552130A>G , CM000683.1:g.47552130A>G	GRCh37
NC_000021.7:g.46376558A>G	NCBI36
NG_008675.1:g.39098A>G , LRG_476:g.39098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2724A>G MANE Select	ENSP00000300527.4:p.Thr908=
ENST00000300527.8:c.2724A>G	ENSP00000300527.4:p.Thr908=
NM_001849.3:c.2724A>G , LRG_476t1:c.2724A>G	NP_001840.3:p.Thr908=
XM_011529451.1:c.2724A>G	XP_011527753.1:p.Thr908=
XM_011529452.1:c.2724A>G	XP_011527754.1:p.Thr908=
XR_937438.1:n.2801A>G
XR_937438.2:n.2808A>G
NM_001849.4:c.2724A>G MANE Select	NP_001840.3:p.Thr908=