Canonical Allele Identifier: CA117950

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 6115
• ClinVar RCV Id: RCV000006489 ; RCV001323986
• dbSNP Id: rs121908609
• ExAC: 5:52394432 T / G
• gnomAD v2: 5-52394432-T-G
• gnomAD v3: 5-53098602-T-G
• gnomAD v4: 5-53098602-T-G
• MyVariant Identifiers: chr5:g.52394432T>G (hg19) ; chr5:g.53098602T>G (hg38)
• PubMed: PMID:16021469

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