Canonical Allele Identifier: CA392937325
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485132T>A , CM000677.2:g.66485132T>A GRCh38
NC_000015.9:g.66777470T>A , CM000677.1:g.66777470T>A GRCh37
NC_000015.8:g.64564524T>A NCBI36
NG_008305.1:g.103260T>A , LRG_725:g.103260T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2096T>A ENSP00000508681.1:n.628-2096T>A
ENST00000685172.1:c.836T>A ENSP00000509604.1:p.Val279Glu
ENST00000685763.1:c.689T>A ENSP00000509016.1:p.Val230Glu
ENST00000686347.1:c.569-2096T>A ENSP00000509027.1:n.569-2096T>A
ENST00000687191.1:n.1194T>A
ENST00000687481.1:n.251T>A
ENST00000689951.1:c.887T>A ENSP00000509308.1:p.Val296Glu
ENST00000691077.1:c.*73T>A ENSP00000509843.1:n.*73T>A
ENST00000691576.1:c.707T>A ENSP00000510066.1:p.Val236Glu
ENST00000691937.1:c.836T>A ENSP00000508768.1:p.Val279Glu
ENST00000692487.1:c.*73T>A ENSP00000509534.1:n.*73T>A
ENST00000692683.1:c.770T>A ENSP00000508437.1:p.Val257Glu
ENST00000693150.1:c.692T>A ENSP00000510309.1:p.Val231Glu
ENST00000307102.10:c.836T>A MANE Select ENSP00000302486.5:p.Val279Glu
ENST00000307102.9:c.836T>A ENSP00000302486.4:p.Val279Glu
ENST00000566326.1:c.308T>A ENSP00000456438.1:p.Val103Glu
NM_002755.3:c.836T>A , LRG_725t1:c.836T>A NP_002746.1:p.Val279Glu
XM_011521783.1:c.770T>A XP_011520085.1:p.Val257Glu
XM_011521783.3:c.770T>A XP_011520085.1:p.Val257Glu
XM_017022411.2:c.758T>A XP_016877900.1:p.Val253Glu
XM_017022412.1:c.692T>A XP_016877901.1:p.Val231Glu
XM_017022413.1:c.308T>A XP_016877902.1:p.Val103Glu
NM_002755.4:c.836T>A MANE Select NP_002746.1:p.Val279Glu