Canonical Allele Identifier: CA359692575

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394450A>T (hg19) ; chr5:g.53098620A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098620A>T , CM000667.2:g.53098620A>T	GRCh38
NC_000005.9:g.52394450A>T , CM000667.1:g.52394450A>T	GRCh37
NC_000005.8:g.52430207A>T	NCBI36
NG_008435.2:g.16149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.549T>A MANE Select	ENSP00000380157.3:p.Phe183Leu
ENST00000450852.8:c.*469T>A MANE Plus Clinical	ENSP00000411022.3:n.*469T>A
ENST00000361377.8:c.*318T>A	ENSP00000355160.4:n.*318T>A
ENST00000396954.7:c.549T>A	ENSP00000380157.3:p.Phe183Leu
ENST00000450852.7:c.*469T>A	ENSP00000411022.3:n.*469T>A
ENST00000502402.5:n.2296T>A
ENST00000508922.5:c.*389T>A	ENSP00000426274.1:n.*389T>A
ENST00000510818.6:c.*422T>A	ENSP00000424267.2:n.*422T>A
ENST00000582677.5:c.*190T>A	ENSP00000462870.1:n.*190T>A
ENST00000584946.5:c.*341T>A	ENSP00000464663.1:n.*341T>A
NM_004531.4:c.549T>A	NP_004522.1:p.Phe183Leu
NM_176806.3:c.*469T>A	NP_789776.1:n.*469T>A
NM_004531.5:c.549T>A MANE Select	NP_004522.1:p.Phe183Leu
NM_176806.4:c.*469T>A MANE Plus Clinical	NP_789776.1:n.*469T>A