Canonical Allele Identifier: CA444164219

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394432T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.567A>G MANE Select	ENSP00000380157.3:p.Ter189=
ENST00000450852.8:c.*487A>G MANE Plus Clinical	ENSP00000411022.3:n.*487A>G
ENST00000361377.8:c.*336A>G	ENSP00000355160.4:n.*336A>G
ENST00000396954.7:c.567A>G	ENSP00000380157.3:p.Ter189=
ENST00000450852.7:c.*487A>G	ENSP00000411022.3:n.*487A>G
ENST00000502402.5:n.2314A>G
ENST00000508922.5:c.*407A>G	ENSP00000426274.1:n.*407A>G
ENST00000510818.6:c.*440A>G	ENSP00000424267.2:n.*440A>G
ENST00000582677.5:c.*208A>G	ENSP00000462870.1:n.*208A>G
ENST00000584946.5:c.*359A>G	ENSP00000464663.1:n.*359A>G
NM_004531.4:c.567A>G	NP_004522.1:p.Ter189=
NM_176806.3:c.*487A>G	NP_789776.1:n.*487A>G
NM_004531.5:c.567A>G MANE Select	NP_004522.1:p.Ter189=
NM_176806.4:c.*487A>G MANE Plus Clinical	NP_789776.1:n.*487A>G