Canonical Allele Identifier: CA243036
Gene: COL9A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.40303158C>T
GRCh37 chr1:g.40768830C>T
Revel Score:
ENST00000372748 (MANE Select) 0.275
gnomAD v2:
1:40768830 C / T
gnomAD v3:
1:40303158 C / T
gnomAD v4:
chr1-40303158-C-T
Joint Max Group AF 0.00324664 (AFR)
Genomes Max Group AF 0.00304908 (AFR)
Exomes Max Group AF 0.00317469 (AFR)
ClinVar RCV:
RCV000176927
RCV001507016
ClinVar Variation:
196169
dbSNP:
141556170
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40303158C>T , CM000663.2:g.40303158C>T GRCh38
NC_000001.10:g.40768830C>T , CM000663.1:g.40768830C>T GRCh37
NC_000001.9:g.40541417C>T NCBI36
NG_008031.1:g.19110G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372748.8:c.1576G>A MANE Select ENSP00000361834.3:p.Val526Met
ENST00000372748.7:c.1576G>A ENSP00000361834.3:p.Val526Met
ENST00000427563.1:c.360-349G>A ENSP00000407377.1:n.360-349G>A
ENST00000466267.1:n.541G>A
ENST00000482722.5:n.1879G>A
NM_001852.3:c.1576G>A NP_001843.1:p.Val526Met
XM_006710365.2:c.1576G>A XP_006710428.1:p.Val526Met
XM_011540714.1:c.1588G>A XP_011539016.1:p.Val530Met
XM_011540715.1:c.1306G>A XP_011539017.1:p.Val436Met
XM_011540716.1:c.1306G>A XP_011539018.1:p.Val436Met
XM_011540717.1:c.1033G>A XP_011539019.1:p.Val345Met
XM_006710365.3:c.1576G>A XP_006710428.1:p.Val526Met
XM_011540715.2:c.1306G>A XP_011539017.1:p.Val436Met
XM_011540716.2:c.1306G>A XP_011539018.1:p.Val436Met
XM_011540717.2:c.1033G>A XP_011539019.1:p.Val345Met
XM_017000332.1:c.1588G>A XP_016855821.1:p.Val530Met
XM_017000333.1:c.1294G>A XP_016855822.1:p.Val432Met
NM_001852.4:c.1576G>A MANE Select NP_001843.1:p.Val526Met
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