Canonical Allele Identifier: CA180933
Gene: MAP2K1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66487259A>T , CM000677.2:g.66487259A>T GRCh38
NC_000015.9:g.66779597A>T , CM000677.1:g.66779597A>T GRCh37
NC_000015.8:g.64566651A>T NCBI36
NG_008305.1:g.105387A>T , LRG_725:g.105387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.659A>T ENSP00000508681.1:p.Gln220Leu
ENST00000685172.1:c.927A>T ENSP00000509604.1:p.Ala309=
ENST00000685763.1:c.780A>T ENSP00000509016.1:p.Ala260=
ENST00000686347.1:c.600A>T ENSP00000509027.1:p.Ala200=
ENST00000687191.1:n.1285A>T
ENST00000687481.1:n.342A>T
ENST00000688689.1:n.682A>T
ENST00000689951.1:c.978A>T ENSP00000509308.1:p.Ala326=
ENST00000691077.1:c.*164A>T ENSP00000509843.1:n.*164A>T
ENST00000691576.1:c.798A>T ENSP00000510066.1:p.Ala266=
ENST00000691937.1:c.896-1956A>T ENSP00000508768.1:n.896-1956A>T
ENST00000692487.1:c.*164A>T ENSP00000509534.1:n.*164A>T
ENST00000692683.1:c.861A>T ENSP00000508437.1:p.Ala287=
ENST00000693150.1:c.783A>T ENSP00000510309.1:p.Ala261=
ENST00000307102.10:c.927A>T MANE Select ENSP00000302486.5:p.Ala309=
ENST00000307102.9:c.927A>T ENSP00000302486.4:p.Ala309=
ENST00000566326.1:c.399A>T ENSP00000456438.1:p.Ala133=
NM_002755.3:c.927A>T , LRG_725t1:c.927A>T NP_002746.1:p.Ala309=
XM_011521783.1:c.861A>T XP_011520085.1:p.Ala287=
XM_011521783.3:c.861A>T XP_011520085.1:p.Ala287=
XM_017022411.2:c.849A>T XP_016877900.1:p.Ala283=
XM_017022412.1:c.783A>T XP_016877901.1:p.Ala261=
XM_017022413.1:c.399A>T XP_016877902.1:p.Ala133=
NM_002755.4:c.927A>T MANE Select NP_002746.1:p.Ala309=
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