Canonical Allele Identifier: CA359692545

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394437T>A (hg19) ; chr5:g.53098607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098607T>A , CM000667.2:g.53098607T>A	GRCh38
NC_000005.9:g.52394437T>A , CM000667.1:g.52394437T>A	GRCh37
NC_000005.8:g.52430194T>A	NCBI36
NG_008435.2:g.16162A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.562A>T MANE Select	ENSP00000380157.3:p.Ser188Cys
ENST00000450852.8:c.*482A>T MANE Plus Clinical	ENSP00000411022.3:n.*482A>T
ENST00000361377.8:c.*331A>T	ENSP00000355160.4:n.*331A>T
ENST00000396954.7:c.562A>T	ENSP00000380157.3:p.Ser188Cys
ENST00000450852.7:c.*482A>T	ENSP00000411022.3:n.*482A>T
ENST00000502402.5:n.2309A>T
ENST00000508922.5:c.*402A>T	ENSP00000426274.1:n.*402A>T
ENST00000510818.6:c.*435A>T	ENSP00000424267.2:n.*435A>T
ENST00000582677.5:c.*203A>T	ENSP00000462870.1:n.*203A>T
ENST00000584946.5:c.*354A>T	ENSP00000464663.1:n.*354A>T
NM_004531.4:c.562A>T	NP_004522.1:p.Ser188Cys
NM_176806.3:c.*482A>T	NP_789776.1:n.*482A>T
NM_004531.5:c.562A>T MANE Select	NP_004522.1:p.Ser188Cys
NM_176806.4:c.*482A>T MANE Plus Clinical	NP_789776.1:n.*482A>T