Canonical Allele Identifier: CA2578307976
Gene: MOCS2 HGNC NCBI

Linked Data

gnomAD v4: 5-53098546-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098546G>T , CM000667.2:g.53098546G>T GRCh38
NC_000005.9:g.52394376G>T , CM000667.1:g.52394376G>T GRCh37
NC_000005.8:g.52430133G>T NCBI36
NG_008435.2:g.16223C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.*56C>A MANE Select ENSP00000380157.3:n.*56C>A
ENST00000450852.8:c.*543C>A MANE Plus Clinical ENSP00000411022.3:n.*543C>A
ENST00000361377.8:c.*392C>A ENSP00000355160.4:n.*392C>A
ENST00000396954.7:c.*56C>A ENSP00000380157.3:n.*56C>A
ENST00000450852.7:c.*543C>A ENSP00000411022.3:n.*543C>A
ENST00000502402.5:n.2370C>A
ENST00000508922.5:c.*463C>A ENSP00000426274.1:n.*463C>A
ENST00000510818.6:c.*496C>A ENSP00000424267.2:n.*496C>A
ENST00000582677.5:c.*264C>A ENSP00000462870.1:n.*264C>A
ENST00000584946.5:c.*415C>A ENSP00000464663.1:n.*415C>A
NM_004531.4:c.*56C>A NP_004522.1:n.*56C>A
NM_176806.3:c.*543C>A NP_789776.1:n.*543C>A
NM_004531.5:c.*56C>A MANE Select NP_004522.1:n.*56C>A
NM_176806.4:c.*543C>A MANE Plus Clinical NP_789776.1:n.*543C>A
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