Canonical Allele Identifier: CA2697549135
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697502
ClinVar RCV Id: RCV003539528
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435084del , CM000677.2:g.66435084del GRCh38
NC_000015.9:g.66727422del , CM000677.1:g.66727422del GRCh37
NC_000015.8:g.64514476del NCBI36
NG_008305.1:g.53212del , LRG_725:g.53212del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.72del ENSP00000508681.1:p.Gln24HisfsTer18
ENST00000685172.1:c.138del ENSP00000509604.1:p.Gln46HisfsTer18
ENST00000685763.1:c.138del ENSP00000509016.1:p.Gln46HisfsTer18
ENST00000686347.1:c.138del ENSP00000509027.1:p.Gln46HisfsTer18
ENST00000687191.1:n.574del
ENST00000689951.1:c.138del ENSP00000509308.1:p.Gln46HisfsTer18
ENST00000691077.1:c.138del ENSP00000509843.1:p.Gln46HisfsTer18
ENST00000691576.1:c.138del ENSP00000510066.1:p.Gln46HisfsTer18
ENST00000691937.1:c.138del ENSP00000508768.1:p.Gln46HisfsTer18
ENST00000692487.1:c.138del ENSP00000509534.1:p.Gln46HisfsTer18
ENST00000692683.1:c.72del ENSP00000508437.1:p.Gln24HisfsTer18
ENST00000693150.1:c.72del ENSP00000510309.1:p.Gln24HisfsTer18
ENST00000307102.10:c.138del MANE Select ENSP00000302486.5:p.Gln46HisfsTer18
ENST00000307102.9:c.138del ENSP00000302486.4:p.Gln46HisfsTer18
ENST00000425818.2:n.649del
NM_002755.3:c.138del , LRG_725t1:c.138del NP_002746.1:p.Gln46HisfsTer18
XM_011521783.1:c.72del XP_011520085.1:p.Gln24HisfsTer18
XM_011521783.3:c.72del XP_011520085.1:p.Gln24HisfsTer18
XM_017022411.2:c.138del XP_016877900.1:p.Gln46HisfsTer18
XM_017022412.1:c.72del XP_016877901.1:p.Gln24HisfsTer18
NM_002755.4:c.138del MANE Select NP_002746.1:p.Gln46HisfsTer18
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