Canonical Allele Identifier: CA392937274
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674933

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485111A>T , CM000677.2:g.66485111A>T GRCh38
NC_000015.9:g.66777449A>T , CM000677.1:g.66777449A>T GRCh37
NC_000015.8:g.64564503A>T NCBI36
NG_008305.1:g.103239A>T , LRG_725:g.103239A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2117A>T ENSP00000508681.1:n.628-2117A>T
ENST00000685172.1:c.815A>T ENSP00000509604.1:p.Glu272Val
ENST00000685763.1:c.668A>T ENSP00000509016.1:p.Glu223Val
ENST00000686347.1:c.569-2117A>T ENSP00000509027.1:n.569-2117A>T
ENST00000687191.1:n.1173A>T
ENST00000687481.1:n.230A>T
ENST00000689951.1:c.866A>T ENSP00000509308.1:p.Glu289Val
ENST00000691077.1:c.*52A>T ENSP00000509843.1:n.*52A>T
ENST00000691576.1:c.686A>T ENSP00000510066.1:p.Glu229Val
ENST00000691937.1:c.815A>T ENSP00000508768.1:p.Glu272Val
ENST00000692487.1:c.*52A>T ENSP00000509534.1:n.*52A>T
ENST00000692683.1:c.749A>T ENSP00000508437.1:p.Glu250Val
ENST00000693150.1:c.671A>T ENSP00000510309.1:p.Glu224Val
ENST00000307102.10:c.815A>T MANE Select ENSP00000302486.5:p.Glu272Val
ENST00000307102.9:c.815A>T ENSP00000302486.4:p.Glu272Val
ENST00000566326.1:c.287A>T ENSP00000456438.1:p.Glu96Val
NM_002755.3:c.815A>T , LRG_725t1:c.815A>T NP_002746.1:p.Glu272Val
XM_011521783.1:c.749A>T XP_011520085.1:p.Glu250Val
XM_011521783.3:c.749A>T XP_011520085.1:p.Glu250Val
XM_017022411.2:c.737A>T XP_016877900.1:p.Glu246Val
XM_017022412.1:c.671A>T XP_016877901.1:p.Glu224Val
XM_017022413.1:c.287A>T XP_016877902.1:p.Glu96Val
NM_002755.4:c.815A>T MANE Select NP_002746.1:p.Glu272Val