Canonical Allele Identifier: CA359693803

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52402982G>A (hg19) ; chr5:g.53107152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107152G>A , CM000667.2:g.53107152G>A	GRCh38
NC_000005.9:g.52402982G>A , CM000667.1:g.52402982G>A	GRCh37
NC_000005.8:g.52438739G>A	NCBI36
NG_008435.2:g.7617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.23C>T MANE Select	ENSP00000380157.3:p.Ser8Phe
ENST00000450852.8:c.210C>T MANE Plus Clinical	ENSP00000411022.3:p.Leu70=
ENST00000361377.8:c.210C>T	ENSP00000355160.4:p.Leu70=
ENST00000396954.7:c.23C>T	ENSP00000380157.3:p.Ser8Phe
ENST00000450852.7:c.210C>T	ENSP00000411022.3:p.Leu70=
ENST00000502402.5:n.946C>T
ENST00000508922.5:c.210C>T	ENSP00000426274.1:p.Leu70=
ENST00000510818.6:c.210C>T	ENSP00000424267.2:p.Leu70=
ENST00000514553.2:n.208C>T
ENST00000527216.5:c.195C>T	ENSP00000435326.1:p.Leu65=
ENST00000582677.5:c.210C>T	ENSP00000462870.1:p.Leu70=
ENST00000584946.5:c.210C>T	ENSP00000464663.1:p.Leu70=
NM_004531.4:c.23C>T	NP_004522.1:p.Ser8Phe
NM_176806.3:c.210C>T	NP_789776.1:p.Leu70=
NM_004531.5:c.23C>T MANE Select	NP_004522.1:p.Ser8Phe
NM_176806.4:c.210C>T MANE Plus Clinical	NP_789776.1:p.Leu70=