Canonical Allele Identifier: CA791577
Gene: COL9A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.40304832G>C
GRCh37 chr1:g.40770504G>C
Revel Score:
ENST00000372748 (MANE Select) 0.418
gnomAD v2:
1:40770504 G / C
gnomAD v3:
1:40304832 G / C
gnomAD v4:
chr1-40304832-G-C
Joint Max Group AF 0.00005864 (MID)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00006165 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40304832G>C , CM000663.2:g.40304832G>C GRCh38
NC_000001.10:g.40770504G>C , CM000663.1:g.40770504G>C GRCh37
NC_000001.9:g.40543091G>C NCBI36
NG_008031.1:g.17436C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372748.8:c.1123C>G MANE Select ENSP00000361834.3:p.Arg375Gly
ENST00000372748.7:c.1123C>G ENSP00000361834.3:p.Arg375Gly
ENST00000466267.1:n.88C>G
ENST00000482722.5:n.1426C>G
NM_001852.3:c.1123C>G NP_001843.1:p.Arg375Gly
XM_006710365.2:c.1123C>G XP_006710428.1:p.Arg375Gly
XM_011540714.1:c.1135C>G XP_011539016.1:p.Arg379Gly
XM_011540715.1:c.853C>G XP_011539017.1:p.Arg285Gly
XM_011540716.1:c.853C>G XP_011539018.1:p.Arg285Gly
XM_011540717.1:c.580C>G XP_011539019.1:p.Arg194Gly
XM_006710365.3:c.1123C>G XP_006710428.1:p.Arg375Gly
XM_011540715.2:c.853C>G XP_011539017.1:p.Arg285Gly
XM_011540716.2:c.853C>G XP_011539018.1:p.Arg285Gly
XM_011540717.2:c.580C>G XP_011539019.1:p.Arg194Gly
XM_017000332.1:c.1135C>G XP_016855821.1:p.Arg379Gly
XM_017000333.1:c.841C>G XP_016855822.1:p.Arg281Gly
NM_001852.4:c.1123C>G MANE Select NP_001843.1:p.Arg375Gly
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