Canonical Allele Identifier: CA117950
Gene: MOCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.53098602T>G
GRCh37 chr5:g.52394432T>G
gnomAD v2:
5:52394432 T / G
gnomAD v3:
5:53098602 T / G
gnomAD v4:
chr5-53098602-T-G
Joint Max Group AF 0.00026134 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00031423 (AMR)
ClinVar RCV:
RCV000006489
RCV001323986
ClinVar Variation:
6115
dbSNP:
121908609
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098602T>G , CM000667.2:g.53098602T>G GRCh38
NC_000005.9:g.52394432T>G , CM000667.1:g.52394432T>G GRCh37
NC_000005.8:g.52430189T>G NCBI36
NG_008435.2:g.16167A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.567A>C MANE Select ENSP00000380157.3:p.Ter189Tyr
ENST00000450852.8:c.*487A>C MANE Plus Clinical ENSP00000411022.3:n.*487A>C
ENST00000361377.8:c.*336A>C ENSP00000355160.4:n.*336A>C
ENST00000396954.7:c.567A>C ENSP00000380157.3:p.Ter189Tyr
ENST00000450852.7:c.*487A>C ENSP00000411022.3:n.*487A>C
ENST00000502402.5:n.2314A>C
ENST00000508922.5:c.*407A>C ENSP00000426274.1:n.*407A>C
ENST00000510818.6:c.*440A>C ENSP00000424267.2:n.*440A>C
ENST00000582677.5:c.*208A>C ENSP00000462870.1:n.*208A>C
ENST00000584946.5:c.*359A>C ENSP00000464663.1:n.*359A>C
NM_004531.4:c.567A>C NP_004522.1:p.Ter189Tyr
NM_176806.3:c.*487A>C NP_789776.1:n.*487A>C
NM_004531.5:c.567A>C MANE Select NP_004522.1:p.Ter189Tyr
NM_176806.4:c.*487A>C MANE Plus Clinical NP_789776.1:n.*487A>C
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