Canonical Allele Identifier: CA392937250
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674857

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485101A>G , CM000677.2:g.66485101A>G GRCh38
NC_000015.9:g.66777439A>G , CM000677.1:g.66777439A>G GRCh37
NC_000015.8:g.64564493A>G NCBI36
NG_008305.1:g.103229A>G , LRG_725:g.103229A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2127A>G ENSP00000508681.1:n.628-2127A>G
ENST00000685172.1:c.805A>G ENSP00000509604.1:p.Lys269Glu
ENST00000685763.1:c.658A>G ENSP00000509016.1:p.Lys220Glu
ENST00000686347.1:c.569-2127A>G ENSP00000509027.1:n.569-2127A>G
ENST00000687191.1:n.1163A>G
ENST00000687481.1:n.220A>G
ENST00000689951.1:c.856A>G ENSP00000509308.1:p.Lys286Glu
ENST00000691077.1:c.*42A>G ENSP00000509843.1:n.*42A>G
ENST00000691576.1:c.676A>G ENSP00000510066.1:p.Lys226Glu
ENST00000691937.1:c.805A>G ENSP00000508768.1:p.Lys269Glu
ENST00000692487.1:c.*42A>G ENSP00000509534.1:n.*42A>G
ENST00000692683.1:c.739A>G ENSP00000508437.1:p.Lys247Glu
ENST00000693150.1:c.661A>G ENSP00000510309.1:p.Lys221Glu
ENST00000307102.10:c.805A>G MANE Select ENSP00000302486.5:p.Lys269Glu
ENST00000307102.9:c.805A>G ENSP00000302486.4:p.Lys269Glu
ENST00000566326.1:c.277A>G ENSP00000456438.1:p.Lys93Glu
NM_002755.3:c.805A>G , LRG_725t1:c.805A>G NP_002746.1:p.Lys269Glu
XM_011521783.1:c.739A>G XP_011520085.1:p.Lys247Glu
XM_011521783.3:c.739A>G XP_011520085.1:p.Lys247Glu
XM_017022411.2:c.727A>G XP_016877900.1:p.Lys243Glu
XM_017022412.1:c.661A>G XP_016877901.1:p.Lys221Glu
XM_017022413.1:c.277A>G XP_016877902.1:p.Lys93Glu
NM_002755.4:c.805A>G MANE Select NP_002746.1:p.Lys269Glu