Canonical Allele Identifier: CA392936992
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674125
COSMIC: COSM3503332
MyVariant Identifiers: chr15:g.66777374G>A (hg19) chr15:g.66485036G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485036G>A , CM000677.2:g.66485036G>A GRCh38
NC_000015.9:g.66777374G>A , CM000677.1:g.66777374G>A GRCh37
NC_000015.8:g.64564428G>A NCBI36
NG_008305.1:g.103164G>A , LRG_725:g.103164G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2192G>A ENSP00000508681.1:n.628-2192G>A
ENST00000685172.1:c.740G>A ENSP00000509604.1:p.Trp247Ter
ENST00000685763.1:c.593G>A ENSP00000509016.1:p.Trp198Ter
ENST00000686347.1:c.569-2192G>A ENSP00000509027.1:n.569-2192G>A
ENST00000687191.1:n.1098G>A
ENST00000687481.1:n.155G>A
ENST00000689951.1:c.791G>A ENSP00000509308.1:p.Trp264Ter
ENST00000691077.1:c.736G>A ENSP00000509843.1:p.Gly246Arg
ENST00000691576.1:c.611G>A ENSP00000510066.1:p.Trp204Ter
ENST00000691937.1:c.740G>A ENSP00000508768.1:p.Trp247Ter
ENST00000692487.1:c.736G>A ENSP00000509534.1:p.Gly246Arg
ENST00000692683.1:c.674G>A ENSP00000508437.1:p.Trp225Ter
ENST00000693150.1:c.596G>A ENSP00000510309.1:p.Trp199Ter
ENST00000307102.10:c.740G>A MANE Select ENSP00000302486.5:p.Trp247Ter
ENST00000307102.9:c.740G>A ENSP00000302486.4:p.Trp247Ter
ENST00000566326.1:c.212G>A ENSP00000456438.1:p.Trp71Ter
NM_002755.3:c.740G>A , LRG_725t1:c.740G>A NP_002746.1:p.Trp247Ter
XM_011521783.1:c.674G>A XP_011520085.1:p.Trp225Ter
XM_011521783.3:c.674G>A XP_011520085.1:p.Trp225Ter
XM_017022411.2:c.662G>A XP_016877900.1:p.Trp221Ter
XM_017022412.1:c.596G>A XP_016877901.1:p.Trp199Ter
XM_017022413.1:c.212G>A XP_016877902.1:p.Trp71Ter
NM_002755.4:c.740G>A MANE Select NP_002746.1:p.Trp247Ter
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