Canonical Allele Identifier: CA117941

Gene: MOCS2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098667C>T , CM000667.2:g.53098667C>T	GRCh38
NC_000005.9:g.52394497C>T , CM000667.1:g.52394497C>T	GRCh37
NC_000005.8:g.52430254C>T	NCBI36
NG_008435.2:g.16102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502G>A MANE Select	ENSP00000380157.3:p.Glu168Lys
ENST00000450852.8:c.*422G>A MANE Plus Clinical	ENSP00000411022.3:n.*422G>A
ENST00000361377.8:c.*271G>A	ENSP00000355160.4:n.*271G>A
ENST00000396954.7:c.502G>A	ENSP00000380157.3:p.Glu168Lys
ENST00000450852.7:c.*422G>A	ENSP00000411022.3:n.*422G>A
ENST00000502402.5:n.2249G>A
ENST00000508922.5:c.*342G>A	ENSP00000426274.1:n.*342G>A
ENST00000510818.6:c.*375G>A	ENSP00000424267.2:n.*375G>A
ENST00000582677.5:c.*143G>A	ENSP00000462870.1:n.*143G>A
ENST00000584946.5:c.*294G>A	ENSP00000464663.1:n.*294G>A
NM_004531.4:c.502G>A	NP_004522.1:p.Glu168Lys
NM_176806.3:c.*422G>A	NP_789776.1:n.*422G>A
NM_004531.5:c.502G>A MANE Select	NP_004522.1:p.Glu168Lys
NM_176806.4:c.*422G>A MANE Plus Clinical	NP_789776.1:n.*422G>A