Canonical Allele Identifier: CA392937054
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485054T>A , CM000677.2:g.66485054T>A GRCh38
NC_000015.9:g.66777392T>A , CM000677.1:g.66777392T>A GRCh37
NC_000015.8:g.64564446T>A NCBI36
NG_008305.1:g.103182T>A , LRG_725:g.103182T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2174T>A ENSP00000508681.1:n.628-2174T>A
ENST00000685172.1:c.758T>A ENSP00000509604.1:p.Leu253Gln
ENST00000685763.1:c.611T>A ENSP00000509016.1:p.Leu204Gln
ENST00000686347.1:c.569-2174T>A ENSP00000509027.1:n.569-2174T>A
ENST00000687191.1:n.1116T>A
ENST00000687481.1:n.173T>A
ENST00000689951.1:c.809T>A ENSP00000509308.1:p.Leu270Gln
ENST00000691077.1:c.754T>A ENSP00000509843.1:p.Trp252Arg
ENST00000691576.1:c.629T>A ENSP00000510066.1:p.Leu210Gln
ENST00000691937.1:c.758T>A ENSP00000508768.1:p.Leu253Gln
ENST00000692487.1:c.754T>A ENSP00000509534.1:p.Trp252Arg
ENST00000692683.1:c.692T>A ENSP00000508437.1:p.Leu231Gln
ENST00000693150.1:c.614T>A ENSP00000510309.1:p.Leu205Gln
ENST00000307102.10:c.758T>A MANE Select ENSP00000302486.5:p.Leu253Gln
ENST00000307102.9:c.758T>A ENSP00000302486.4:p.Leu253Gln
ENST00000566326.1:c.230T>A ENSP00000456438.1:p.Leu77Gln
NM_002755.3:c.758T>A , LRG_725t1:c.758T>A NP_002746.1:p.Leu253Gln
XM_011521783.1:c.692T>A XP_011520085.1:p.Leu231Gln
XM_011521783.3:c.692T>A XP_011520085.1:p.Leu231Gln
XM_017022411.2:c.680T>A XP_016877900.1:p.Leu227Gln
XM_017022412.1:c.614T>A XP_016877901.1:p.Leu205Gln
XM_017022413.1:c.230T>A XP_016877902.1:p.Leu77Gln
NM_002755.4:c.758T>A MANE Select NP_002746.1:p.Leu253Gln