Canonical Allele Identifier: CA10071916
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46121586C>A
GRCh37 chr21:g.47541500C>A
Revel Score:
ENST00000300527 (MANE Select) 0.594
ENST00000357838 0.594
ENST00000310645 0.594
ENST00000409416 0.594
ENST00000397763 (MANE Plus Clinical) 0.594
ENST00000413758 0.594
gnomAD v2:
21:47541500 C / A
gnomAD v3:
21:46121586 C / A
gnomAD v4:
chr21-46121586-C-A
Joint Max Group AF 0.00433171 (EAS)
Genomes Max Group AF 0.00485176 (EAS)
Exomes Max Group AF 0.00408755 (EAS)
JSON-LD

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
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