Canonical Allele Identifier: CA3263660

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53101465C>A , CM000667.2:g.53101465C>A	GRCh38
NC_000005.9:g.52397295C>A , CM000667.1:g.52397295C>A	GRCh37
NC_000005.8:g.52433052C>A	NCBI36
NG_008435.2:g.13304G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004531.5:c.271G>T MANE Select	NP_004522.1:p.Glu91Ter
ENST00000396954.8:c.271G>T MANE Select	ENSP00000380157.3:p.Glu91Ter
NM_176806.4:c.*191G>T MANE Plus Clinical	NP_789776.1:n.*191G>T
ENST00000450852.8:c.*191G>T MANE Plus Clinical	ENSP00000411022.3:n.*191G>T
NM_004531.4:c.271G>T	NP_004522.1:p.Glu91Ter
NM_176806.3:c.*191G>T	NP_789776.1:n.*191G>T
ENST00000361377.8:c.*146+632G>T	ENSP00000355160.4:n.*146+632G>T
ENST00000396954.7:c.271G>T	ENSP00000380157.3:p.Glu91Ter
ENST00000450852.7:c.*191G>T	ENSP00000411022.3:n.*191G>T
ENST00000502402.5:n.1194G>T
ENST00000508922.5:c.*191G>T	ENSP00000426274.1:n.*191G>T
ENST00000510818.6:c.*191G>T	ENSP00000424267.2:n.*191G>T
ENST00000514553.2:n.456G>T
ENST00000527216.5:c.*191G>T	ENSP00000435326.1:n.*191G>T
ENST00000582677.5:c.*19-931G>T	ENSP00000462870.1:n.*19-931G>T
ENST00000584946.5:c.*63G>T	ENSP00000464663.1:n.*63G>T