Canonical Allele Identifier: CA245199
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46112819G>A
GRCh37 chr21:g.47532733G>A
Revel Score:
ENST00000300527 (MANE Select) 0.437
ENST00000357838 0.437
ENST00000310645 0.437
ENST00000409416 0.437
ENST00000397763 (MANE Plus Clinical) 0.437
gnomAD v2:
21:47532733 G / A
gnomAD v3:
21:46112819 G / A
gnomAD v4:
chr21-46112819-G-A
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001093 (NFE)
ClinVar RCV:
RCV000178169
RCV000805017
ClinVar Variation:
197202
dbSNP:
199806576
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46112819G>A , CM000683.2:g.46112819G>A GRCh38
NC_000021.8:g.47532733G>A , CM000683.1:g.47532733G>A GRCh37
NC_000021.7:g.46357161G>A NCBI36
NG_008675.1:g.19701G>A , LRG_476:g.19701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.730G>A MANE Plus Clinical ENSP00000380870.1:p.Gly244Arg
ENST00000300527.9:c.730G>A MANE Select ENSP00000300527.4:p.Gly244Arg
ENST00000409416.6:c.730G>A ENSP00000387115.1:p.Gly244Arg
ENST00000300527.8:c.730G>A ENSP00000300527.4:p.Gly244Arg
ENST00000310645.9:c.730G>A ENSP00000312529.5:p.Gly244Arg
ENST00000397763.5:c.730G>A ENSP00000380870.1:p.Gly244Arg
ENST00000409416.5:c.730G>A ENSP00000387115.1:p.Gly244Arg
ENST00000460886.1:n.176G>A
NM_001849.3:c.730G>A , LRG_476t1:c.730G>A NP_001840.3:p.Gly244Arg
NM_058174.2:c.730G>A NP_478054.2:p.Gly244Arg
NM_058175.2:c.730G>A NP_478055.2:p.Gly244Arg
XM_011529451.1:c.730G>A XP_011527753.1:p.Gly244Arg
XM_011529452.1:c.730G>A XP_011527754.1:p.Gly244Arg
XR_937438.1:n.853G>A
XR_937439.1:n.853G>A
XR_937438.2:n.860G>A
XR_937439.2:n.860G>A
NM_001849.4:c.730G>A MANE Select NP_001840.3:p.Gly244Arg
NM_058174.3:c.730G>A MANE Plus Clinical NP_478054.2:p.Gly244Arg
NM_058175.3:c.730G>A NP_478055.2:p.Gly244Arg
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