Canonical Allele Identifier: CA2731115102
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140675417
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485175del , CM000677.2:g.66485175del GRCh38
NC_000015.9:g.66777513del , CM000677.1:g.66777513del GRCh37
NC_000015.8:g.64564567del NCBI36
NG_008305.1:g.103303del , LRG_725:g.103303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2053del ENSP00000508681.1:n.628-2053del
ENST00000685172.1:c.879del ENSP00000509604.1:p.Arg295GlyfsTer23
ENST00000685763.1:c.732del ENSP00000509016.1:p.Arg246GlyfsTer23
ENST00000686347.1:c.569-2053del ENSP00000509027.1:n.569-2053del
ENST00000687191.1:n.1237del
ENST00000687481.1:n.294del
ENST00000689951.1:c.930del ENSP00000509308.1:p.Arg312GlyfsTer23
ENST00000691077.1:c.*116del ENSP00000509843.1:n.*116del
ENST00000691576.1:c.750del ENSP00000510066.1:p.Arg252GlyfsTer23
ENST00000691937.1:c.879del ENSP00000508768.1:p.Arg295GlyfsTer?
ENST00000692487.1:c.*116del ENSP00000509534.1:n.*116del
ENST00000692683.1:c.813del ENSP00000508437.1:p.Arg273GlyfsTer23
ENST00000693150.1:c.735del ENSP00000510309.1:p.Arg247GlyfsTer23
ENST00000307102.10:c.879del MANE Select ENSP00000302486.5:p.Arg295GlyfsTer23
ENST00000307102.9:c.879del ENSP00000302486.4:p.Arg295GlyfsTer23
ENST00000566326.1:c.351del ENSP00000456438.1:p.Arg119GlyfsTer23
NM_002755.3:c.879del , LRG_725t1:c.879del NP_002746.1:p.Arg295GlyfsTer23
XM_011521783.1:c.813del XP_011520085.1:p.Arg273GlyfsTer23
XM_011521783.3:c.813del XP_011520085.1:p.Arg273GlyfsTer23
XM_017022411.2:c.801del XP_016877900.1:p.Arg269GlyfsTer23
XM_017022412.1:c.735del XP_016877901.1:p.Arg247GlyfsTer23
XM_017022413.1:c.351del XP_016877902.1:p.Arg119GlyfsTer23
NM_002755.4:c.879del MANE Select NP_002746.1:p.Arg295GlyfsTer23
Search 100 bp 5'
Search 100 bp 3'