Canonical Allele Identifier: CA791313
Gene: COL9A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.40301848C>T
GRCh37 chr1:g.40767520C>T
Revel Score:
ENST00000372748 (MANE Select) 0.775
gnomAD v2:
1:40767520 C / T
gnomAD v3:
1:40301848 C / T
gnomAD v4:
chr1-40301848-C-T
Joint Max Group AF 0.00053038 (NFE)
Genomes Max Group AF 0.00058546 (NFE)
Exomes Max Group AF 0.00051784 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40301848C>T , CM000663.2:g.40301848C>T GRCh38
NC_000001.10:g.40767520C>T , CM000663.1:g.40767520C>T GRCh37
NC_000001.9:g.40540107C>T NCBI36
NG_008031.1:g.20420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372748.8:c.1834G>A MANE Select ENSP00000361834.3:p.Gly612Arg
ENST00000372748.7:c.1834G>A ENSP00000361834.3:p.Gly612Arg
ENST00000466267.1:n.799G>A
ENST00000482722.5:n.2137G>A
NM_001852.3:c.1834G>A NP_001843.1:p.Gly612Arg
XM_006710365.2:c.1834G>A XP_006710428.1:p.Gly612Arg
XM_011540714.1:c.1846G>A XP_011539016.1:p.Gly616Arg
XM_011540715.1:c.1564G>A XP_011539017.1:p.Gly522Arg
XM_011540716.1:c.1564G>A XP_011539018.1:p.Gly522Arg
XM_011540717.1:c.1291G>A XP_011539019.1:p.Gly431Arg
XM_006710365.3:c.1834G>A XP_006710428.1:p.Gly612Arg
XM_011540715.2:c.1564G>A XP_011539017.1:p.Gly522Arg
XM_011540716.2:c.1564G>A XP_011539018.1:p.Gly522Arg
XM_011540717.2:c.1291G>A XP_011539019.1:p.Gly431Arg
XM_017000332.1:c.1846G>A XP_016855821.1:p.Gly616Arg
XM_017000333.1:c.1552G>A XP_016855822.1:p.Gly518Arg
NM_001852.4:c.1834G>A MANE Select NP_001843.1:p.Gly612Arg
Search 100 bp 5'
Search 100 bp 3'