Canonical Allele Identifier: CA10071293
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46112309G>A
GRCh37 chr21:g.47532223G>A
Revel Score:
ENST00000300527 (MANE Select) 0.216
ENST00000357838 0.216
ENST00000310645 0.216
ENST00000436769 0.216
ENST00000409416 0.216
ENST00000397763 (MANE Plus Clinical) 0.216
gnomAD v2:
21:47532223 G / A
gnomAD v3:
21:46112309 G / A
gnomAD v4:
chr21-46112309-G-A
Joint Max Group AF 0.00023418 (AMR)
Genomes Max Group AF 0.00005284 (AMR)
Exomes Max Group AF 0.00025964 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46112309G>A , CM000683.2:g.46112309G>A GRCh38
NC_000021.8:g.47532223G>A , CM000683.1:g.47532223G>A GRCh37
NC_000021.7:g.46356651G>A NCBI36
NG_008675.1:g.19191G>A , LRG_476:g.19191G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.446G>A MANE Plus Clinical ENSP00000380870.1:p.Arg149His
ENST00000300527.9:c.446G>A MANE Select ENSP00000300527.4:p.Arg149His
ENST00000409416.6:c.446G>A ENSP00000387115.1:p.Arg149His
ENST00000300527.8:c.446G>A ENSP00000300527.4:p.Arg149His
ENST00000310645.9:c.446G>A ENSP00000312529.5:p.Arg149His
ENST00000397763.5:c.446G>A ENSP00000380870.1:p.Arg149His
ENST00000409416.5:c.446G>A ENSP00000387115.1:p.Arg149His
ENST00000436769.5:c.446G>A ENSP00000390418.1:p.Arg149His
NM_001849.3:c.446G>A , LRG_476t1:c.446G>A NP_001840.3:p.Arg149His
NM_058174.2:c.446G>A NP_478054.2:p.Arg149His
NM_058175.2:c.446G>A NP_478055.2:p.Arg149His
XM_011529451.1:c.446G>A XP_011527753.1:p.Arg149His
XM_011529452.1:c.446G>A XP_011527754.1:p.Arg149His
XR_937438.1:n.569G>A
XR_937439.1:n.569G>A
XR_937438.2:n.576G>A
XR_937439.2:n.576G>A
NM_001849.4:c.446G>A MANE Select NP_001840.3:p.Arg149His
NM_058174.3:c.446G>A MANE Plus Clinical NP_478054.2:p.Arg149His
NM_058175.3:c.446G>A NP_478055.2:p.Arg149His
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