Canonical Allele Identifier: CA392937422
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485180G>T , CM000677.2:g.66485180G>T GRCh38
NC_000015.9:g.66777518G>T , CM000677.1:g.66777518G>T GRCh37
NC_000015.8:g.64564572G>T NCBI36
NG_008305.1:g.103308G>T , LRG_725:g.103308G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2048G>T ENSP00000508681.1:n.628-2048G>T
ENST00000685172.1:c.884G>T ENSP00000509604.1:p.Arg295Met
ENST00000685763.1:c.737G>T ENSP00000509016.1:p.Arg246Met
ENST00000686347.1:c.569-2048G>T ENSP00000509027.1:n.569-2048G>T
ENST00000687191.1:n.1242G>T
ENST00000687481.1:n.299G>T
ENST00000689951.1:c.935G>T ENSP00000509308.1:p.Arg312Met
ENST00000691077.1:c.*121G>T ENSP00000509843.1:n.*121G>T
ENST00000691576.1:c.755G>T ENSP00000510066.1:p.Arg252Met
ENST00000691937.1:c.884G>T ENSP00000508768.1:p.Arg295Met
ENST00000692487.1:c.*121G>T ENSP00000509534.1:n.*121G>T
ENST00000692683.1:c.818G>T ENSP00000508437.1:p.Arg273Met
ENST00000693150.1:c.740G>T ENSP00000510309.1:p.Arg247Met
ENST00000307102.10:c.884G>T MANE Select ENSP00000302486.5:p.Arg295Met
ENST00000307102.9:c.884G>T ENSP00000302486.4:p.Arg295Met
ENST00000566326.1:c.356G>T ENSP00000456438.1:p.Arg119Met
NM_002755.3:c.884G>T , LRG_725t1:c.884G>T NP_002746.1:p.Arg295Met
XM_011521783.1:c.818G>T XP_011520085.1:p.Arg273Met
XM_011521783.3:c.818G>T XP_011520085.1:p.Arg273Met
XM_017022411.2:c.806G>T XP_016877900.1:p.Arg269Met
XM_017022412.1:c.740G>T XP_016877901.1:p.Arg247Met
XM_017022413.1:c.356G>T XP_016877902.1:p.Arg119Met
NM_002755.4:c.884G>T MANE Select NP_002746.1:p.Arg295Met