Canonical Allele Identifier: CA359692541

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394435A>T (hg19) ; chr5:g.53098605A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098605A>T , CM000667.2:g.53098605A>T	GRCh38
NC_000005.9:g.52394435A>T , CM000667.1:g.52394435A>T	GRCh37
NC_000005.8:g.52430192A>T	NCBI36
NG_008435.2:g.16164T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.564T>A MANE Select	ENSP00000380157.3:p.Ser188Arg
ENST00000450852.8:c.*484T>A MANE Plus Clinical	ENSP00000411022.3:n.*484T>A
ENST00000361377.8:c.*333T>A	ENSP00000355160.4:n.*333T>A
ENST00000396954.7:c.564T>A	ENSP00000380157.3:p.Ser188Arg
ENST00000450852.7:c.*484T>A	ENSP00000411022.3:n.*484T>A
ENST00000502402.5:n.2311T>A
ENST00000508922.5:c.*404T>A	ENSP00000426274.1:n.*404T>A
ENST00000510818.6:c.*437T>A	ENSP00000424267.2:n.*437T>A
ENST00000582677.5:c.*205T>A	ENSP00000462870.1:n.*205T>A
ENST00000584946.5:c.*356T>A	ENSP00000464663.1:n.*356T>A
NM_004531.4:c.564T>A	NP_004522.1:p.Ser188Arg
NM_176806.3:c.*484T>A	NP_789776.1:n.*484T>A
NM_004531.5:c.564T>A MANE Select	NP_004522.1:p.Ser188Arg
NM_176806.4:c.*484T>A MANE Plus Clinical	NP_789776.1:n.*484T>A