Canonical Allele Identifier: CA392937177
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674691

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485083A>C , CM000677.2:g.66485083A>C GRCh38
NC_000015.9:g.66777421A>C , CM000677.1:g.66777421A>C GRCh37
NC_000015.8:g.64564475A>C NCBI36
NG_008305.1:g.103211A>C , LRG_725:g.103211A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2145A>C ENSP00000508681.1:n.628-2145A>C
ENST00000685172.1:c.787A>C ENSP00000509604.1:p.Ile263Leu
ENST00000685763.1:c.640A>C ENSP00000509016.1:p.Ile214Leu
ENST00000686347.1:c.569-2145A>C ENSP00000509027.1:n.569-2145A>C
ENST00000687191.1:n.1145A>C
ENST00000687481.1:n.202A>C
ENST00000689951.1:c.838A>C ENSP00000509308.1:p.Ile280Leu
ENST00000691077.1:c.*24A>C ENSP00000509843.1:n.*24A>C
ENST00000691576.1:c.658A>C ENSP00000510066.1:p.Ile220Leu
ENST00000691937.1:c.787A>C ENSP00000508768.1:p.Ile263Leu
ENST00000692487.1:c.*24A>C ENSP00000509534.1:n.*24A>C
ENST00000692683.1:c.721A>C ENSP00000508437.1:p.Ile241Leu
ENST00000693150.1:c.643A>C ENSP00000510309.1:p.Ile215Leu
ENST00000307102.10:c.787A>C MANE Select ENSP00000302486.5:p.Ile263Leu
ENST00000307102.9:c.787A>C ENSP00000302486.4:p.Ile263Leu
ENST00000566326.1:c.259A>C ENSP00000456438.1:p.Ile87Leu
NM_002755.3:c.787A>C , LRG_725t1:c.787A>C NP_002746.1:p.Ile263Leu
XM_011521783.1:c.721A>C XP_011520085.1:p.Ile241Leu
XM_011521783.3:c.721A>C XP_011520085.1:p.Ile241Leu
XM_017022411.2:c.709A>C XP_016877900.1:p.Ile237Leu
XM_017022412.1:c.643A>C XP_016877901.1:p.Ile215Leu
XM_017022413.1:c.259A>C XP_016877902.1:p.Ile87Leu
NM_002755.4:c.787A>C MANE Select NP_002746.1:p.Ile263Leu