Canonical Allele Identifier: CA618958608
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1372773588
gnomAD v2: 15-66777380-TG-T
gnomAD v4: 15-66485042-TG-T
MyVariant Identifiers: chr15:g.66777381del (hg19) chr15:g.66485043del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485045del , CM000677.2:g.66485045del GRCh38
NC_000015.9:g.66777383del , CM000677.1:g.66777383del GRCh37
NC_000015.8:g.64564437del NCBI36
NG_008305.1:g.103173del , LRG_725:g.103173del

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2183del ENSP00000508681.1:n.628-2183del
ENST00000685172.1:c.749del ENSP00000509604.1:p.Gly250AspfsTer5
ENST00000685763.1:c.602del ENSP00000509016.1:p.Gly201AspfsTer5
ENST00000686347.1:c.569-2183del ENSP00000509027.1:n.569-2183del
ENST00000687191.1:n.1107del
ENST00000687481.1:n.164del
ENST00000689951.1:c.800del ENSP00000509308.1:p.Gly267AspfsTer5
ENST00000691077.1:c.745del ENSP00000509843.1:p.Asp249ThrfsTer?
ENST00000691576.1:c.620del ENSP00000510066.1:p.Gly207AspfsTer5
ENST00000691937.1:c.749del ENSP00000508768.1:p.Gly250AspfsTer5
ENST00000692487.1:c.745del ENSP00000509534.1:p.Asp249ThrfsTer?
ENST00000692683.1:c.683del ENSP00000508437.1:p.Gly228AspfsTer5
ENST00000693150.1:c.605del ENSP00000510309.1:p.Gly202AspfsTer5
ENST00000307102.10:c.749del MANE Select ENSP00000302486.5:p.Gly250AspfsTer5
ENST00000307102.9:c.749del ENSP00000302486.4:p.Gly250AspfsTer5
ENST00000566326.1:c.221del ENSP00000456438.1:p.Gly74AspfsTer5
NM_002755.3:c.749del , LRG_725t1:c.749del NP_002746.1:p.Gly250AspfsTer5
XM_011521783.1:c.683del XP_011520085.1:p.Gly228AspfsTer5
XM_011521783.3:c.683del XP_011520085.1:p.Gly228AspfsTer5
XM_017022411.2:c.671del XP_016877900.1:p.Gly224AspfsTer5
XM_017022412.1:c.605del XP_016877901.1:p.Gly202AspfsTer5
XM_017022413.1:c.221del XP_016877902.1:p.Gly74AspfsTer5
NM_002755.4:c.749del MANE Select NP_002746.1:p.Gly250AspfsTer5
Search 100 bp 5'
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