Canonical Allele Identifier: CA392937032
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485048T>A , CM000677.2:g.66485048T>A GRCh38
NC_000015.9:g.66777386T>A , CM000677.1:g.66777386T>A GRCh37
NC_000015.8:g.64564440T>A NCBI36
NG_008305.1:g.103176T>A , LRG_725:g.103176T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2180T>A ENSP00000508681.1:n.628-2180T>A
ENST00000685172.1:c.752T>A ENSP00000509604.1:p.Leu251Gln
ENST00000685763.1:c.605T>A ENSP00000509016.1:p.Leu202Gln
ENST00000686347.1:c.569-2180T>A ENSP00000509027.1:n.569-2180T>A
ENST00000687191.1:n.1110T>A
ENST00000687481.1:n.167T>A
ENST00000689951.1:c.803T>A ENSP00000509308.1:p.Leu268Gln
ENST00000691077.1:c.748T>A ENSP00000509843.1:p.Cys250Ser
ENST00000691576.1:c.623T>A ENSP00000510066.1:p.Leu208Gln
ENST00000691937.1:c.752T>A ENSP00000508768.1:p.Leu251Gln
ENST00000692487.1:c.748T>A ENSP00000509534.1:p.Cys250Ser
ENST00000692683.1:c.686T>A ENSP00000508437.1:p.Leu229Gln
ENST00000693150.1:c.608T>A ENSP00000510309.1:p.Leu203Gln
ENST00000307102.10:c.752T>A MANE Select ENSP00000302486.5:p.Leu251Gln
ENST00000307102.9:c.752T>A ENSP00000302486.4:p.Leu251Gln
ENST00000566326.1:c.224T>A ENSP00000456438.1:p.Leu75Gln
NM_002755.3:c.752T>A , LRG_725t1:c.752T>A NP_002746.1:p.Leu251Gln
XM_011521783.1:c.686T>A XP_011520085.1:p.Leu229Gln
XM_011521783.3:c.686T>A XP_011520085.1:p.Leu229Gln
XM_017022411.2:c.674T>A XP_016877900.1:p.Leu225Gln
XM_017022412.1:c.608T>A XP_016877901.1:p.Leu203Gln
XM_017022413.1:c.224T>A XP_016877902.1:p.Leu75Gln
NM_002755.4:c.752T>A MANE Select NP_002746.1:p.Leu251Gln