Canonical Allele Identifier: CA392936138
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs774278448

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481778G>A , CM000677.2:g.66481778G>A GRCh38
NC_000015.9:g.66774116G>A , CM000677.1:g.66774116G>A GRCh37
NC_000015.8:g.64561170G>A NCBI36
NG_008305.1:g.99906G>A , LRG_725:g.99906G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.526G>A ENSP00000508681.1:p.Val176Ile
ENST00000685172.1:c.592G>A ENSP00000509604.1:p.Val198Ile
ENST00000685763.1:c.445G>A ENSP00000509016.1:p.Val149Ile
ENST00000686347.1:c.569-5450G>A ENSP00000509027.1:n.569-5450G>A
ENST00000687191.1:n.950G>A
ENST00000689951.1:c.643G>A ENSP00000509308.1:p.Val215Ile
ENST00000691077.1:c.592G>A ENSP00000509843.1:p.Val198Ile
ENST00000691576.1:c.569-3216G>A ENSP00000510066.1:n.569-3216G>A
ENST00000691937.1:c.592G>A ENSP00000508768.1:p.Val198Ile
ENST00000692487.1:c.592G>A ENSP00000509534.1:p.Val198Ile
ENST00000692683.1:c.526G>A ENSP00000508437.1:p.Val176Ile
ENST00000693150.1:c.448G>A ENSP00000510309.1:p.Val150Ile
ENST00000307102.10:c.592G>A MANE Select ENSP00000302486.5:p.Val198Ile
ENST00000307102.9:c.592G>A ENSP00000302486.4:p.Val198Ile
ENST00000566326.1:c.64G>A ENSP00000456438.1:p.Val22Ile
NM_002755.3:c.592G>A , LRG_725t1:c.592G>A NP_002746.1:p.Val198Ile
XM_011521783.1:c.526G>A XP_011520085.1:p.Val176Ile
XM_011521783.3:c.526G>A XP_011520085.1:p.Val176Ile
XM_017022411.2:c.514G>A XP_016877900.1:p.Val172Ile
XM_017022412.1:c.448G>A XP_016877901.1:p.Val150Ile
XM_017022413.1:c.64G>A XP_016877902.1:p.Val22Ile
NM_002755.4:c.592G>A MANE Select NP_002746.1:p.Val198Ile