Canonical Allele Identifier: CA2673822454
Gene: MOCS2 HGNC NCBI

Linked Data

gnomAD v4: 5-53098429-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098432del , CM000667.2:g.53098432del GRCh38
NC_000005.9:g.52394262del , CM000667.1:g.52394262del GRCh37
NC_000005.8:g.52430019del NCBI36
NG_008435.2:g.16339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.*172del MANE Select ENSP00000380157.3:n.*172del
ENST00000450852.8:c.*659del MANE Plus Clinical ENSP00000411022.3:n.*659del
ENST00000361377.8:c.*508del ENSP00000355160.4:n.*508del
ENST00000396954.7:c.*172del ENSP00000380157.3:n.*172del
ENST00000450852.7:c.*659del ENSP00000411022.3:n.*659del
ENST00000502402.5:n.2486del
ENST00000508922.5:c.*579del ENSP00000426274.1:n.*579del
ENST00000510818.6:c.*612del ENSP00000424267.2:n.*612del
ENST00000582677.5:c.*380del ENSP00000462870.1:n.*380del
NM_004531.4:c.*172del NP_004522.1:n.*172del
NM_176806.3:c.*659del NP_789776.1:n.*659del
NM_004531.5:c.*172del MANE Select NP_004522.1:n.*172del
NM_176806.4:c.*659del MANE Plus Clinical NP_789776.1:n.*659del
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