Canonical Allele Identifier: CA3263818
Community Standard Title: NM_004531.5(MOCS2):c.-155T>G
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53108629A>C , CM000667.2:g.53108629A>C GRCh38
NC_000005.9:g.52404459A>C , CM000667.1:g.52404459A>C GRCh37
NC_000005.8:g.52440216A>C NCBI36
NG_008435.2:g.6140T>G

Transcript Alleles

HGVS Amino-acid Change
NM_004531.5:c.-155T>G MANE Select NP_004522.1:n.-155T>G
ENST00000396954.8:c.-155T>G MANE Select ENSP00000380157.3:n.-155T>G
NM_176806.4:c.33T>G MANE Plus Clinical NP_789776.1:p.Tyr11Ter
ENST00000450852.8:c.33T>G MANE Plus Clinical ENSP00000411022.3:p.Tyr11Ter
NM_004531.4:c.-155T>G NP_004522.1:n.-155T>G
NM_176806.3:c.33T>G NP_789776.1:p.Tyr11Ter
ENST00000361377.8:c.33T>G ENSP00000355160.4:p.Tyr11Ter
ENST00000396954.7:c.-155T>G ENSP00000380157.3:n.-155T>G
ENST00000450852.7:c.33T>G ENSP00000411022.3:p.Tyr11Ter
ENST00000508922.5:c.33T>G ENSP00000426274.1:p.Tyr11Ter
ENST00000510818.6:c.33T>G ENSP00000424267.2:p.Tyr11Ter
ENST00000514553.2:n.31T>G
ENST00000527216.5:c.18T>G ENSP00000435326.1:p.Tyr6Ter
ENST00000582677.5:c.33T>G ENSP00000462870.1:p.Tyr11Ter
ENST00000584946.5:c.33T>G ENSP00000464663.1:p.Tyr11Ter