Canonical Allele Identifier: CA117943

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107116dup , CM000667.2:g.53107116dup	GRCh38
NC_000005.9:g.52402946dup , CM000667.1:g.52402946dup	GRCh37
NC_000005.8:g.52438703dup	NCBI36
NG_008435.2:g.7659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.65dup MANE Select	ENSP00000380157.3:p.Leu23IlefsTer5
ENST00000450852.8:c.252dup MANE Plus Clinical	ENSP00000411022.3:p.Ile85HisfsTer2
ENST00000361377.8:c.252dup	ENSP00000355160.4:p.Ile85HisfsTer2
ENST00000396954.7:c.65dup	ENSP00000380157.3:p.Leu23IlefsTer5
ENST00000450852.7:c.252dup	ENSP00000411022.3:p.Ile85HisfsTer2
ENST00000502402.5:n.988dup
ENST00000508922.5:c.252dup	ENSP00000426274.1:p.Ile85HisfsTer2
ENST00000510818.6:c.252dup	ENSP00000424267.2:p.Ile85HisfsTer2
ENST00000514553.2:n.250dup
ENST00000527216.5:c.237dup	ENSP00000435326.1:p.Ile80HisfsTer2
ENST00000582677.5:c.252dup	ENSP00000462870.1:p.Ile85HisfsTer2
ENST00000584946.5:c.252dup	ENSP00000464663.1:p.Ile85HisfsTer2
NM_004531.4:c.65dup	NP_004522.1:p.Leu23IlefsTer5
NM_176806.3:c.252dup	NP_789776.1:p.Ile85HisfsTer2
NM_004531.5:c.65dup MANE Select	NP_004522.1:p.Leu23IlefsTer5
NM_176806.4:c.252dup MANE Plus Clinical	NP_789776.1:p.Ile85HisfsTer2