Canonical Allele Identifier: CA444164245
Gene: MOCS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.52394465T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098635T>A , CM000667.2:g.53098635T>A GRCh38
NC_000005.9:g.52394465T>A , CM000667.1:g.52394465T>A GRCh37
NC_000005.8:g.52430222T>A NCBI36
NG_008435.2:g.16134A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396954.8:c.534A>T MANE Select ENSP00000380157.3:p.Gly178=
ENST00000450852.8:c.*454A>T MANE Plus Clinical ENSP00000411022.3:n.*454A>T
ENST00000361377.8:c.*303A>T ENSP00000355160.4:n.*303A>T
ENST00000396954.7:c.534A>T ENSP00000380157.3:p.Gly178=
ENST00000450852.7:c.*454A>T ENSP00000411022.3:n.*454A>T
ENST00000502402.5:n.2281A>T
ENST00000508922.5:c.*374A>T ENSP00000426274.1:n.*374A>T
ENST00000510818.6:c.*407A>T ENSP00000424267.2:n.*407A>T
ENST00000582677.5:c.*175A>T ENSP00000462870.1:n.*175A>T
ENST00000584946.5:c.*326A>T ENSP00000464663.1:n.*326A>T
NM_004531.4:c.534A>T NP_004522.1:p.Gly178=
NM_176806.3:c.*454A>T NP_789776.1:n.*454A>T
NM_004531.5:c.534A>T MANE Select NP_004522.1:p.Gly178=
NM_176806.4:c.*454A>T MANE Plus Clinical NP_789776.1:n.*454A>T