Canonical Allele Identifier: CA392936460
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1321043
ClinVar RCV Id: RCV001777022
dbSNP Id: rs2140668182
MyVariant Identifiers: chr15:g.66774189C>A (hg19) chr15:g.66481851C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481851C>A , CM000677.2:g.66481851C>A GRCh38
NC_000015.9:g.66774189C>A , CM000677.1:g.66774189C>A GRCh37
NC_000015.8:g.64561243C>A NCBI36
NG_008305.1:g.99979C>A , LRG_725:g.99979C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.599C>A ENSP00000508681.1:p.Ser200Tyr
ENST00000685172.1:c.665C>A ENSP00000509604.1:p.Ser222Tyr
ENST00000685763.1:c.518C>A ENSP00000509016.1:p.Ser173Tyr
ENST00000686347.1:c.569-5377C>A ENSP00000509027.1:n.569-5377C>A
ENST00000687191.1:n.1023C>A
ENST00000689951.1:c.716C>A ENSP00000509308.1:p.Ser239Tyr
ENST00000691077.1:c.665C>A ENSP00000509843.1:p.Ser222Tyr
ENST00000691576.1:c.569-3143C>A ENSP00000510066.1:n.569-3143C>A
ENST00000691937.1:c.665C>A ENSP00000508768.1:p.Ser222Tyr
ENST00000692487.1:c.665C>A ENSP00000509534.1:p.Ser222Tyr
ENST00000692683.1:c.599C>A ENSP00000508437.1:p.Ser200Tyr
ENST00000693150.1:c.521C>A ENSP00000510309.1:p.Ser174Tyr
ENST00000307102.10:c.665C>A MANE Select ENSP00000302486.5:p.Ser222Tyr
ENST00000307102.9:c.665C>A ENSP00000302486.4:p.Ser222Tyr
ENST00000566326.1:c.137C>A ENSP00000456438.1:p.Ser46Tyr
NM_002755.3:c.665C>A , LRG_725t1:c.665C>A NP_002746.1:p.Ser222Tyr
XM_011521783.1:c.599C>A XP_011520085.1:p.Ser200Tyr
XM_011521783.3:c.599C>A XP_011520085.1:p.Ser200Tyr
XM_017022411.2:c.587C>A XP_016877900.1:p.Ser196Tyr
XM_017022412.1:c.521C>A XP_016877901.1:p.Ser174Tyr
XM_017022413.1:c.137C>A XP_016877902.1:p.Ser46Tyr
NM_002755.4:c.665C>A MANE Select NP_002746.1:p.Ser222Tyr
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