Canonical Allele Identifier: CA1546396946

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53102184_53102185dup , CM000667.2:g.53102184_53102185dup	GRCh38
NC_000005.9:g.52398014_52398015dup , CM000667.1:g.52398014_52398015dup	GRCh37
NC_000005.8:g.52433771_52433772dup	NCBI36
NG_008435.2:g.12586_12587dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004531.5:c.140_141dup MANE Select	NP_004522.1:p.Asn48Ter
ENST00000396954.8:c.140_141dup MANE Select	ENSP00000380157.3:p.Asn48Ter
NM_176806.4:c.*60_*61dup MANE Plus Clinical	NP_789776.1:n.*60_*61dup
ENST00000450852.8:c.*60_*61dup MANE Plus Clinical	ENSP00000411022.3:n.*60_*61dup
NM_004531.4:c.140_141dup	NP_004522.1:p.Asn48Ter
NM_176806.3:c.*60_*61dup	NP_789776.1:n.*60_*61dup
ENST00000361377.8:c.*60_*61dup	ENSP00000355160.4:n.*60_*61dup
ENST00000396954.7:c.140_141dup	ENSP00000380157.3:p.Asn48Ter
ENST00000450852.7:c.*60_*61dup	ENSP00000411022.3:n.*60_*61dup
ENST00000502402.5:n.1063_1064dup
ENST00000508922.5:c.*60_*61dup	ENSP00000426274.1:n.*60_*61dup
ENST00000510818.6:c.*60_*61dup	ENSP00000424267.2:n.*60_*61dup
ENST00000514553.2:n.325_326dup
ENST00000527216.5:c.*60_*61dup	ENSP00000435326.1:n.*60_*61dup
ENST00000582677.5:c.*19-1649_*19-1648dup	ENSP00000462870.1:n.*19-1649_*19-1648dup
ENST00000584946.5:c.*19-674_*19-673dup	ENSP00000464663.1:n.*19-674_*19-673dup