Canonical Allele Identifier: CA1546395362
Gene: MOCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098608G= , CM000667.2:g.53098608G= GRCh38
NC_000005.9:g.52394438G= , CM000667.1:g.52394438G= GRCh37
NC_000005.8:g.52430195G= NCBI36
NG_008435.2:g.16161C=

Transcript Alleles

HGVS Amino-acid change
ENST00000396954.8:c.561C= MANE Select ENSP00000380157.3:p.Asn187=
ENST00000450852.8:c.*481C= MANE Plus Clinical ENSP00000411022.3:n.*481C=
ENST00000361377.8:c.*330C= ENSP00000355160.4:n.*330C=
ENST00000396954.7:c.561C= ENSP00000380157.3:p.Asn187=
ENST00000450852.7:c.*481C= ENSP00000411022.3:n.*481C=
ENST00000502402.5:n.2308C=
ENST00000508922.5:c.*401C= ENSP00000426274.1:n.*401C=
ENST00000510818.6:c.*434C= ENSP00000424267.2:n.*434C=
ENST00000582677.5:c.*202C= ENSP00000462870.1:n.*202C=
ENST00000584946.5:c.*353C= ENSP00000464663.1:n.*353C=
NM_004531.4:c.561C= NP_004522.1:p.Asn187=
NM_176806.3:c.*481C= NP_789776.1:n.*481C=
NM_004531.5:c.561C= MANE Select NP_004522.1:p.Asn187=
NM_176806.4:c.*481C= MANE Plus Clinical NP_789776.1:n.*481C=