Canonical Allele Identifier: CA392936569
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2846662
ClinVar RCV Id: RCV003655951
dbSNP Id: rs1473690179
MyVariant Identifiers: chr15:g.66774216C>G (hg19) chr15:g.66481878C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481878C>G , CM000677.2:g.66481878C>G GRCh38
NC_000015.9:g.66774216C>G , CM000677.1:g.66774216C>G GRCh37
NC_000015.8:g.64561270C>G NCBI36
NG_008305.1:g.100006C>G , LRG_725:g.100006C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.626C>G ENSP00000508681.1:p.Ser209Trp
ENST00000685172.1:c.692C>G ENSP00000509604.1:p.Ser231Trp
ENST00000685763.1:c.545C>G ENSP00000509016.1:p.Ser182Trp
ENST00000686347.1:c.569-5350C>G ENSP00000509027.1:n.569-5350C>G
ENST00000687191.1:n.1050C>G
ENST00000689951.1:c.743C>G ENSP00000509308.1:p.Ser248Trp
ENST00000691077.1:c.692C>G ENSP00000509843.1:p.Ser231Trp
ENST00000691576.1:c.569-3116C>G ENSP00000510066.1:n.569-3116C>G
ENST00000691937.1:c.692C>G ENSP00000508768.1:p.Ser231Trp
ENST00000692487.1:c.692C>G ENSP00000509534.1:p.Ser231Trp
ENST00000692683.1:c.626C>G ENSP00000508437.1:p.Ser209Trp
ENST00000693150.1:c.548C>G ENSP00000510309.1:p.Ser183Trp
ENST00000307102.10:c.692C>G MANE Select ENSP00000302486.5:p.Ser231Trp
ENST00000307102.9:c.692C>G ENSP00000302486.4:p.Ser231Trp
ENST00000566326.1:c.164C>G ENSP00000456438.1:p.Ser55Trp
NM_002755.3:c.692C>G , LRG_725t1:c.692C>G NP_002746.1:p.Ser231Trp
XM_011521783.1:c.626C>G XP_011520085.1:p.Ser209Trp
XM_011521783.3:c.626C>G XP_011520085.1:p.Ser209Trp
XM_017022411.2:c.614C>G XP_016877900.1:p.Ser205Trp
XM_017022412.1:c.548C>G XP_016877901.1:p.Ser183Trp
XM_017022413.1:c.164C>G XP_016877902.1:p.Ser55Trp
NM_002755.4:c.692C>G MANE Select NP_002746.1:p.Ser231Trp
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