Canonical Allele Identifier: CA2578307982
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098578_53098579del , CM000667.2:g.53098578_53098579del GRCh38
NC_000005.9:g.52394408_52394409del , CM000667.1:g.52394408_52394409del GRCh37
NC_000005.8:g.52430165_52430166del NCBI36
NG_008435.2:g.16190_16191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.*23_*24del MANE Select ENSP00000380157.3:n.*23_*24del
ENST00000450852.8:c.*510_*511del MANE Plus Clinical ENSP00000411022.3:n.*510_*511del
ENST00000361377.8:c.*359_*360del ENSP00000355160.4:n.*359_*360del
ENST00000396954.7:c.*23_*24del ENSP00000380157.3:n.*23_*24del
ENST00000450852.7:c.*510_*511del ENSP00000411022.3:n.*510_*511del
ENST00000502402.5:n.2337_2338del
ENST00000508922.5:c.*430_*431del ENSP00000426274.1:n.*430_*431del
ENST00000510818.6:c.*463_*464del ENSP00000424267.2:n.*463_*464del
ENST00000582677.5:c.*231_*232del ENSP00000462870.1:n.*231_*232del
ENST00000584946.5:c.*382_*383del ENSP00000464663.1:n.*382_*383del
NM_004531.4:c.*23_*24del NP_004522.1:n.*23_*24del
NM_176806.3:c.*510_*511del NP_789776.1:n.*510_*511del
NM_004531.5:c.*23_*24del MANE Select NP_004522.1:n.*23_*24del
NM_176806.4:c.*510_*511del MANE Plus Clinical NP_789776.1:n.*510_*511del