Canonical Allele Identifier: CA392937040
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674254
MyVariant Identifiers: chr15:g.66777388T>G (hg19) chr15:g.66485050T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485050T>G , CM000677.2:g.66485050T>G GRCh38
NC_000015.9:g.66777388T>G , CM000677.1:g.66777388T>G GRCh37
NC_000015.8:g.64564442T>G NCBI36
NG_008305.1:g.103178T>G , LRG_725:g.103178T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2178T>G ENSP00000508681.1:n.628-2178T>G
ENST00000685172.1:c.754T>G ENSP00000509604.1:p.Ser252Ala
ENST00000685763.1:c.607T>G ENSP00000509016.1:p.Ser203Ala
ENST00000686347.1:c.569-2178T>G ENSP00000509027.1:n.569-2178T>G
ENST00000687191.1:n.1112T>G
ENST00000687481.1:n.169T>G
ENST00000689951.1:c.805T>G ENSP00000509308.1:p.Ser269Ala
ENST00000691077.1:c.750T>G ENSP00000509843.1:p.Cys250Trp
ENST00000691576.1:c.625T>G ENSP00000510066.1:p.Ser209Ala
ENST00000691937.1:c.754T>G ENSP00000508768.1:p.Ser252Ala
ENST00000692487.1:c.750T>G ENSP00000509534.1:p.Cys250Trp
ENST00000692683.1:c.688T>G ENSP00000508437.1:p.Ser230Ala
ENST00000693150.1:c.610T>G ENSP00000510309.1:p.Ser204Ala
ENST00000307102.10:c.754T>G MANE Select ENSP00000302486.5:p.Ser252Ala
ENST00000307102.9:c.754T>G ENSP00000302486.4:p.Ser252Ala
ENST00000566326.1:c.226T>G ENSP00000456438.1:p.Ser76Ala
NM_002755.3:c.754T>G , LRG_725t1:c.754T>G NP_002746.1:p.Ser252Ala
XM_011521783.1:c.688T>G XP_011520085.1:p.Ser230Ala
XM_011521783.3:c.688T>G XP_011520085.1:p.Ser230Ala
XM_017022411.2:c.676T>G XP_016877900.1:p.Ser226Ala
XM_017022412.1:c.610T>G XP_016877901.1:p.Ser204Ala
XM_017022413.1:c.226T>G XP_016877902.1:p.Ser76Ala
NM_002755.4:c.754T>G MANE Select NP_002746.1:p.Ser252Ala
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