Canonical Allele Identifier: CA392937012
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674180

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485043G>A , CM000677.2:g.66485043G>A GRCh38
NC_000015.9:g.66777381G>A , CM000677.1:g.66777381G>A GRCh37
NC_000015.8:g.64564435G>A NCBI36
NG_008305.1:g.103171G>A , LRG_725:g.103171G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2185G>A ENSP00000508681.1:n.628-2185G>A
ENST00000685172.1:c.747G>A ENSP00000509604.1:p.Met249Ile
ENST00000685763.1:c.600G>A ENSP00000509016.1:p.Met200Ile
ENST00000686347.1:c.569-2185G>A ENSP00000509027.1:n.569-2185G>A
ENST00000687191.1:n.1105G>A
ENST00000687481.1:n.162G>A
ENST00000689951.1:c.798G>A ENSP00000509308.1:p.Met266Ile
ENST00000691077.1:c.743G>A ENSP00000509843.1:p.Trp248Ter
ENST00000691576.1:c.618G>A ENSP00000510066.1:p.Met206Ile
ENST00000691937.1:c.747G>A ENSP00000508768.1:p.Met249Ile
ENST00000692487.1:c.743G>A ENSP00000509534.1:p.Trp248Ter
ENST00000692683.1:c.681G>A ENSP00000508437.1:p.Met227Ile
ENST00000693150.1:c.603G>A ENSP00000510309.1:p.Met201Ile
ENST00000307102.10:c.747G>A MANE Select ENSP00000302486.5:p.Met249Ile
ENST00000307102.9:c.747G>A ENSP00000302486.4:p.Met249Ile
ENST00000566326.1:c.219G>A ENSP00000456438.1:p.Met73Ile
NM_002755.3:c.747G>A , LRG_725t1:c.747G>A NP_002746.1:p.Met249Ile
XM_011521783.1:c.681G>A XP_011520085.1:p.Met227Ile
XM_011521783.3:c.681G>A XP_011520085.1:p.Met227Ile
XM_017022411.2:c.669G>A XP_016877900.1:p.Met223Ile
XM_017022412.1:c.603G>A XP_016877901.1:p.Met201Ile
XM_017022413.1:c.219G>A XP_016877902.1:p.Met73Ile
NM_002755.4:c.747G>A MANE Select NP_002746.1:p.Met249Ile