Canonical Allele Identifier: CA392936557
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481874A>T , CM000677.2:g.66481874A>T GRCh38
NC_000015.9:g.66774212A>T , CM000677.1:g.66774212A>T GRCh37
NC_000015.8:g.64561266A>T NCBI36
NG_008305.1:g.100002A>T , LRG_725:g.100002A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.622A>T ENSP00000508681.1:p.Met208Leu
ENST00000685172.1:c.688A>T ENSP00000509604.1:p.Met230Leu
ENST00000685763.1:c.541A>T ENSP00000509016.1:p.Met181Leu
ENST00000686347.1:c.569-5354A>T ENSP00000509027.1:n.569-5354A>T
ENST00000687191.1:n.1046A>T
ENST00000689951.1:c.739A>T ENSP00000509308.1:p.Met247Leu
ENST00000691077.1:c.688A>T ENSP00000509843.1:p.Met230Leu
ENST00000691576.1:c.569-3120A>T ENSP00000510066.1:n.569-3120A>T
ENST00000691937.1:c.688A>T ENSP00000508768.1:p.Met230Leu
ENST00000692487.1:c.688A>T ENSP00000509534.1:p.Met230Leu
ENST00000692683.1:c.622A>T ENSP00000508437.1:p.Met208Leu
ENST00000693150.1:c.544A>T ENSP00000510309.1:p.Met182Leu
ENST00000307102.10:c.688A>T MANE Select ENSP00000302486.5:p.Met230Leu
ENST00000307102.9:c.688A>T ENSP00000302486.4:p.Met230Leu
ENST00000566326.1:c.160A>T ENSP00000456438.1:p.Met54Leu
NM_002755.3:c.688A>T , LRG_725t1:c.688A>T NP_002746.1:p.Met230Leu
XM_011521783.1:c.622A>T XP_011520085.1:p.Met208Leu
XM_011521783.3:c.622A>T XP_011520085.1:p.Met208Leu
XM_017022411.2:c.610A>T XP_016877900.1:p.Met204Leu
XM_017022412.1:c.544A>T XP_016877901.1:p.Met182Leu
XM_017022413.1:c.160A>T XP_016877902.1:p.Met54Leu
NM_002755.4:c.688A>T MANE Select NP_002746.1:p.Met230Leu