Canonical Allele Identifier: CA359694242
Community Standard Title: NM_004531.5(MOCS2):c.-169-2A>G
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53108645T>C , CM000667.2:g.53108645T>C GRCh38
NC_000005.9:g.52404475T>C , CM000667.1:g.52404475T>C GRCh37
NC_000005.8:g.52440232T>C NCBI36
NG_008435.2:g.6124A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004531.5:c.-169-2A>G MANE Select NP_004522.1:n.-169-2A>G
ENST00000396954.8:c.-169-2A>G MANE Select ENSP00000380157.3:n.-169-2A>G
NM_176806.4:c.19-2A>G MANE Plus Clinical NP_789776.1:n.19-2A>G
ENST00000450852.8:c.19-2A>G MANE Plus Clinical ENSP00000411022.3:n.19-2A>G
NM_004531.4:c.-169-2A>G NP_004522.1:n.-169-2A>G
NM_176806.3:c.19-2A>G NP_789776.1:n.19-2A>G
ENST00000361377.8:c.19-2A>G ENSP00000355160.4:n.19-2A>G
ENST00000396954.7:c.-169-2A>G ENSP00000380157.3:n.-169-2A>G
ENST00000450852.7:c.19-2A>G ENSP00000411022.3:n.19-2A>G
ENST00000508922.5:c.19-2A>G ENSP00000426274.1:n.19-2A>G
ENST00000510818.6:c.19-2A>G ENSP00000424267.2:n.19-2A>G
ENST00000514553.2:n.17-2A>G
ENST00000527216.5:c.4-2A>G ENSP00000435326.1:n.4-2A>G
ENST00000582677.5:c.19-2A>G ENSP00000462870.1:n.19-2A>G
ENST00000584946.5:c.19-2A>G ENSP00000464663.1:n.19-2A>G