Canonical Allele Identifier: CA359692597

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394458C>T (hg19) ; chr5:g.53098628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098628C>T , CM000667.2:g.53098628C>T	GRCh38
NC_000005.9:g.52394458C>T , CM000667.1:g.52394458C>T	GRCh37
NC_000005.8:g.52430215C>T	NCBI36
NG_008435.2:g.16141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.541G>A MANE Select	ENSP00000380157.3:p.Glu181Lys
ENST00000450852.8:c.*461G>A MANE Plus Clinical	ENSP00000411022.3:n.*461G>A
ENST00000361377.8:c.*310G>A	ENSP00000355160.4:n.*310G>A
ENST00000396954.7:c.541G>A	ENSP00000380157.3:p.Glu181Lys
ENST00000450852.7:c.*461G>A	ENSP00000411022.3:n.*461G>A
ENST00000502402.5:n.2288G>A
ENST00000508922.5:c.*381G>A	ENSP00000426274.1:n.*381G>A
ENST00000510818.6:c.*414G>A	ENSP00000424267.2:n.*414G>A
ENST00000582677.5:c.*182G>A	ENSP00000462870.1:n.*182G>A
ENST00000584946.5:c.*333G>A	ENSP00000464663.1:n.*333G>A
NM_004531.4:c.541G>A	NP_004522.1:p.Glu181Lys
NM_176806.3:c.*461G>A	NP_789776.1:n.*461G>A
NM_004531.5:c.541G>A MANE Select	NP_004522.1:p.Glu181Lys
NM_176806.4:c.*461G>A MANE Plus Clinical	NP_789776.1:n.*461G>A