Canonical Allele Identifier: CA1546395388

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098659G= , CM000667.2:g.53098659G=	GRCh38
NC_000005.9:g.52394489G= , CM000667.1:g.52394489G=	GRCh37
NC_000005.8:g.52430246G=	NCBI36
NG_008435.2:g.16110C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.510C= MANE Select	ENSP00000380157.3:p.Tyr170=
ENST00000450852.8:c.*430C= MANE Plus Clinical	ENSP00000411022.3:n.*430C=
ENST00000361377.8:c.*279C=	ENSP00000355160.4:n.*279C=
ENST00000396954.7:c.510C=	ENSP00000380157.3:p.Tyr170=
ENST00000450852.7:c.*430C=	ENSP00000411022.3:n.*430C=
ENST00000502402.5:n.2257C=
ENST00000508922.5:c.*350C=	ENSP00000426274.1:n.*350C=
ENST00000510818.6:c.*383C=	ENSP00000424267.2:n.*383C=
ENST00000582677.5:c.*151C=	ENSP00000462870.1:n.*151C=
ENST00000584946.5:c.*302C=	ENSP00000464663.1:n.*302C=
NM_004531.4:c.510C=	NP_004522.1:p.Tyr170=
NM_176806.3:c.*430C=	NP_789776.1:n.*430C=
NM_004531.5:c.510C= MANE Select	NP_004522.1:p.Tyr170=
NM_176806.4:c.*430C= MANE Plus Clinical	NP_789776.1:n.*430C=