Canonical Allele Identifier: CA392937262
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674888

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485105A>T , CM000677.2:g.66485105A>T GRCh38
NC_000015.9:g.66777443A>T , CM000677.1:g.66777443A>T GRCh37
NC_000015.8:g.64564497A>T NCBI36
NG_008305.1:g.103233A>T , LRG_725:g.103233A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2123A>T ENSP00000508681.1:n.628-2123A>T
ENST00000685172.1:c.809A>T ENSP00000509604.1:p.Glu270Val
ENST00000685763.1:c.662A>T ENSP00000509016.1:p.Glu221Val
ENST00000686347.1:c.569-2123A>T ENSP00000509027.1:n.569-2123A>T
ENST00000687191.1:n.1167A>T
ENST00000687481.1:n.224A>T
ENST00000689951.1:c.860A>T ENSP00000509308.1:p.Glu287Val
ENST00000691077.1:c.*46A>T ENSP00000509843.1:n.*46A>T
ENST00000691576.1:c.680A>T ENSP00000510066.1:p.Glu227Val
ENST00000691937.1:c.809A>T ENSP00000508768.1:p.Glu270Val
ENST00000692487.1:c.*46A>T ENSP00000509534.1:n.*46A>T
ENST00000692683.1:c.743A>T ENSP00000508437.1:p.Glu248Val
ENST00000693150.1:c.665A>T ENSP00000510309.1:p.Glu222Val
ENST00000307102.10:c.809A>T MANE Select ENSP00000302486.5:p.Glu270Val
ENST00000307102.9:c.809A>T ENSP00000302486.4:p.Glu270Val
ENST00000566326.1:c.281A>T ENSP00000456438.1:p.Glu94Val
NM_002755.3:c.809A>T , LRG_725t1:c.809A>T NP_002746.1:p.Glu270Val
XM_011521783.1:c.743A>T XP_011520085.1:p.Glu248Val
XM_011521783.3:c.743A>T XP_011520085.1:p.Glu248Val
XM_017022411.2:c.731A>T XP_016877900.1:p.Glu244Val
XM_017022412.1:c.665A>T XP_016877901.1:p.Glu222Val
XM_017022413.1:c.281A>T XP_016877902.1:p.Glu94Val
NM_002755.4:c.809A>T MANE Select NP_002746.1:p.Glu270Val