Canonical Allele Identifier: CA392937205
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674767

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485090C>A , CM000677.2:g.66485090C>A GRCh38
NC_000015.9:g.66777428C>A , CM000677.1:g.66777428C>A GRCh37
NC_000015.8:g.64564482C>A NCBI36
NG_008305.1:g.103218C>A , LRG_725:g.103218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2138C>A ENSP00000508681.1:n.628-2138C>A
ENST00000685172.1:c.794C>A ENSP00000509604.1:p.Pro265His
ENST00000685763.1:c.647C>A ENSP00000509016.1:p.Pro216His
ENST00000686347.1:c.569-2138C>A ENSP00000509027.1:n.569-2138C>A
ENST00000687191.1:n.1152C>A
ENST00000687481.1:n.209C>A
ENST00000689951.1:c.845C>A ENSP00000509308.1:p.Pro282His
ENST00000691077.1:c.*31C>A ENSP00000509843.1:n.*31C>A
ENST00000691576.1:c.665C>A ENSP00000510066.1:p.Pro222His
ENST00000691937.1:c.794C>A ENSP00000508768.1:p.Pro265His
ENST00000692487.1:c.*31C>A ENSP00000509534.1:n.*31C>A
ENST00000692683.1:c.728C>A ENSP00000508437.1:p.Pro243His
ENST00000693150.1:c.650C>A ENSP00000510309.1:p.Pro217His
ENST00000307102.10:c.794C>A MANE Select ENSP00000302486.5:p.Pro265His
ENST00000307102.9:c.794C>A ENSP00000302486.4:p.Pro265His
ENST00000566326.1:c.266C>A ENSP00000456438.1:p.Pro89His
NM_002755.3:c.794C>A , LRG_725t1:c.794C>A NP_002746.1:p.Pro265His
XM_011521783.1:c.728C>A XP_011520085.1:p.Pro243His
XM_011521783.3:c.728C>A XP_011520085.1:p.Pro243His
XM_017022411.2:c.716C>A XP_016877900.1:p.Pro239His
XM_017022412.1:c.650C>A XP_016877901.1:p.Pro217His
XM_017022413.1:c.266C>A XP_016877902.1:p.Pro89His
NM_002755.4:c.794C>A MANE Select NP_002746.1:p.Pro265His