Canonical Allele Identifier: CA2018061372
Gene: MTUS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.29387195C>T , CM000675.2:g.29387195C>T GRCh38
NC_000013.10:g.29961332C>T , CM000675.1:g.29961332C>T GRCh37
NC_000013.9:g.28859332C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000612955.6:c.3117+27722C>T MANE Select ENSP00000483729.2:n.3117+27722C>T
ENST00000431530.7:c.3147+27722C>T ENSP00000392057.3:n.3147+27722C>T
ENST00000612955.4:c.3147+27722C>T ENSP00000483729.1:n.3147+27722C>T
NM_001033602.2:c.3147+27722C>T NP_001028774.2:n.3147+27722C>T
XM_011535019.1:c.3207+27722C>T XP_011533321.1:n.3207+27722C>T
XM_011535020.1:c.3147+27722C>T XP_011533322.1:n.3147+27722C>T
XM_011535021.1:c.3144+27722C>T XP_011533323.1:n.3144+27722C>T
XM_011535022.1:c.735+27722C>T XP_011533324.1:n.735+27722C>T
XM_011535023.1:c.735+27722C>T XP_011533325.1:n.735+27722C>T
NM_001033602.3:c.3117+27722C>T NP_001028774.3:n.3117+27722C>T
NM_001366650.1:c.3114+27722C>T NP_001353579.1:n.3114+27722C>T
NM_001366651.1:c.2919+27722C>T NP_001353580.1:n.2919+27722C>T
XM_011535019.3:c.3207+27722C>T XP_011533321.1:n.3207+27722C>T
XM_011535020.3:c.3147+27722C>T XP_011533322.1:n.3147+27722C>T
XM_011535022.2:c.735+27722C>T XP_011533324.1:n.735+27722C>T
XM_024449335.1:c.735+27722C>T XP_024305103.1:n.735+27722C>T
NM_001033602.4:c.3117+27722C>T MANE Select NP_001028774.3:n.3117+27722C>T
NM_001384605.1:c.3117+27722C>T NP_001371534.1:n.3117+27722C>T
NM_001384606.1:c.3117+27722C>T NP_001371535.1:n.3117+27722C>T