Canonical Allele Identifier: CA1546400402
Community Standard Title: NM_004531.5(MOCS2):c.-633C=
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53109714G= , CM000667.2:g.53109714G= GRCh38
NC_000005.9:g.52405544G= , CM000667.1:g.52405544G= GRCh37
NC_000005.8:g.52441301G= NCBI36
NG_008435.2:g.5055C=

Transcript Alleles

HGVS Amino-acid Change
NM_004531.5:c.-633C= MANE Select NP_004522.1:n.-633C=
ENST00000396954.8:c.-633C= MANE Select ENSP00000380157.3:n.-633C=
NM_176806.4:c.16C= MANE Plus Clinical NP_789776.1:p.Gln6=
ENST00000450852.8:c.16C= MANE Plus Clinical ENSP00000411022.3:p.Gln6=
NM_004531.4:c.-633C= NP_004522.1:n.-633C=
NM_176806.3:c.16C= NP_789776.1:p.Gln6=
ENST00000361377.8:c.16C= ENSP00000355160.4:p.Gln6=
ENST00000396954.7:c.-633C= ENSP00000380157.3:n.-633C=
ENST00000450852.7:c.16C= ENSP00000411022.3:p.Gln6=
ENST00000508922.5:c.16C= ENSP00000426274.1:p.Gln6=
ENST00000510818.6:c.16C= ENSP00000424267.2:p.Gln6=
ENST00000514553.2:n.14C=
ENST00000527216.5:c.3+271C= ENSP00000435326.1:n.3+271C=
ENST00000582677.5:c.16C= ENSP00000462870.1:p.Gln6=
ENST00000584946.5:c.16C= ENSP00000464663.1:p.Gln6=