Canonical Allele Identifier: CA2673822536
Gene: MOCS2 HGNC NCBI

Linked Data

gnomAD v4: 5-53098550-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098550A>G , CM000667.2:g.53098550A>G GRCh38
NC_000005.9:g.52394380A>G , CM000667.1:g.52394380A>G GRCh37
NC_000005.8:g.52430137A>G NCBI36
NG_008435.2:g.16219T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.*52T>C MANE Select ENSP00000380157.3:n.*52T>C
ENST00000450852.8:c.*539T>C MANE Plus Clinical ENSP00000411022.3:n.*539T>C
ENST00000361377.8:c.*388T>C ENSP00000355160.4:n.*388T>C
ENST00000396954.7:c.*52T>C ENSP00000380157.3:n.*52T>C
ENST00000450852.7:c.*539T>C ENSP00000411022.3:n.*539T>C
ENST00000502402.5:n.2366T>C
ENST00000508922.5:c.*459T>C ENSP00000426274.1:n.*459T>C
ENST00000510818.6:c.*492T>C ENSP00000424267.2:n.*492T>C
ENST00000582677.5:c.*260T>C ENSP00000462870.1:n.*260T>C
ENST00000584946.5:c.*411T>C ENSP00000464663.1:n.*411T>C
NM_004531.4:c.*52T>C NP_004522.1:n.*52T>C
NM_176806.3:c.*539T>C NP_789776.1:n.*539T>C
NM_004531.5:c.*52T>C MANE Select NP_004522.1:n.*52T>C
NM_176806.4:c.*539T>C MANE Plus Clinical NP_789776.1:n.*539T>C
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