Canonical Allele Identifier: CA10071916

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 284555
• ClinVar RCV Id: RCV000270832 ; RCV000329762 ; RCV000325923 ; RCV000766751 ; RCV001087788 ; RCV004543048
• dbSNP Id: rs75581470
• ExAC: 21:47541500 C / A
• gnomAD v2: 21-47541500-C-A
• gnomAD v3: 21-46121586-C-A
• gnomAD v4: 21-46121586-C-A
• MyVariant Identifiers: chr21:g.47541500C>A (hg19) ; chr21:g.46121586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121586C>A , CM000683.2:g.46121586C>A	GRCh38
NC_000021.8:g.47541500C>A , CM000683.1:g.47541500C>A	GRCh37
NC_000021.7:g.46365928C>A	NCBI36
NG_008675.1:g.28468C>A , LRG_476:g.28468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1489C>A MANE Plus Clinical	ENSP00000380870.1:p.Pro497Thr
ENST00000300527.9:c.1489C>A MANE Select	ENSP00000300527.4:p.Pro497Thr
ENST00000409416.6:c.1489C>A	ENSP00000387115.1:p.Pro497Thr
ENST00000300527.8:c.1489C>A	ENSP00000300527.4:p.Pro497Thr
ENST00000310645.9:c.1489C>A	ENSP00000312529.5:p.Pro497Thr
ENST00000397763.5:c.1489C>A	ENSP00000380870.1:p.Pro497Thr
ENST00000409416.5:c.1489C>A	ENSP00000387115.1:p.Pro497Thr
ENST00000413758.1:c.112C>A	ENSP00000395751.1:p.Pro38Thr
NM_001849.3:c.1489C>A , LRG_476t1:c.1489C>A	NP_001840.3:p.Pro497Thr
NM_058174.2:c.1489C>A	NP_478054.2:p.Pro497Thr
NM_058175.2:c.1489C>A	NP_478055.2:p.Pro497Thr
XM_011529451.1:c.1489C>A	XP_011527753.1:p.Pro497Thr
XM_011529452.1:c.1489C>A	XP_011527754.1:p.Pro497Thr
XR_937438.1:n.1612C>A
XR_937439.1:n.1612C>A
XR_937438.2:n.1619C>A
XR_937439.2:n.1619C>A
NM_001849.4:c.1489C>A MANE Select	NP_001840.3:p.Pro497Thr
NM_058174.3:c.1489C>A MANE Plus Clinical	NP_478054.2:p.Pro497Thr
NM_058175.3:c.1489C>A	NP_478055.2:p.Pro497Thr