Canonical Allele Identifier: CA444164973
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53107110_53107111insC , CM000667.2:g.53107110_53107111insC GRCh38
NC_000005.9:g.52402940_52402941insC , CM000667.1:g.52402940_52402941insC GRCh37
NC_000005.8:g.52438697_52438698insC NCBI36
NG_008435.2:g.7658_7659insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.64_65insG MANE Select ENSP00000380157.3:p.Pro22ArgfsTer6
ENST00000450852.8:c.251_252insG MANE Plus Clinical ENSP00000411022.3:p.Ile85HisfsTer2
ENST00000361377.8:c.251_252insG ENSP00000355160.4:p.Ile85HisfsTer2
ENST00000396954.7:c.64_65insG ENSP00000380157.3:p.Pro22ArgfsTer6
ENST00000450852.7:c.251_252insG ENSP00000411022.3:p.Ile85HisfsTer2
ENST00000502402.5:n.987_988insG
ENST00000508922.5:c.251_252insG ENSP00000426274.1:p.Ile85HisfsTer2
ENST00000510818.6:c.251_252insG ENSP00000424267.2:p.Ile85HisfsTer2
ENST00000514553.2:n.249_250insG
ENST00000527216.5:c.236_237insG ENSP00000435326.1:p.Ile80HisfsTer2
ENST00000582677.5:c.251_252insG ENSP00000462870.1:p.Ile85HisfsTer2
ENST00000584946.5:c.251_252insG ENSP00000464663.1:p.Ile85HisfsTer2
NM_004531.4:c.64_65insG NP_004522.1:p.Pro22ArgfsTer6
NM_176806.3:c.251_252insG NP_789776.1:p.Ile85HisfsTer2
NM_004531.5:c.64_65insG MANE Select NP_004522.1:p.Pro22ArgfsTer6
NM_176806.4:c.251_252insG MANE Plus Clinical NP_789776.1:p.Ile85HisfsTer2