Canonical Allele Identifier: CA392937072
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1318907
ClinVar RCV Id: RCV001755555
dbSNP Id: rs760016123
MyVariant Identifiers: chr15:g.66777397G>A (hg19) chr15:g.66485059G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485059G>A , CM000677.2:g.66485059G>A GRCh38
NC_000015.9:g.66777397G>A , CM000677.1:g.66777397G>A GRCh37
NC_000015.8:g.64564451G>A NCBI36
NG_008305.1:g.103187G>A , LRG_725:g.103187G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2169G>A ENSP00000508681.1:n.628-2169G>A
ENST00000685172.1:c.763G>A ENSP00000509604.1:p.Glu255Lys
ENST00000685763.1:c.616G>A ENSP00000509016.1:p.Glu206Lys
ENST00000686347.1:c.569-2169G>A ENSP00000509027.1:n.569-2169G>A
ENST00000687191.1:n.1121G>A
ENST00000687481.1:n.178G>A
ENST00000689951.1:c.814G>A ENSP00000509308.1:p.Glu272Lys
ENST00000691077.1:c.759G>A ENSP00000509843.1:p.Ter253=
ENST00000691576.1:c.634G>A ENSP00000510066.1:p.Glu212Lys
ENST00000691937.1:c.763G>A ENSP00000508768.1:p.Glu255Lys
ENST00000692487.1:c.759G>A ENSP00000509534.1:p.Ter253=
ENST00000692683.1:c.697G>A ENSP00000508437.1:p.Glu233Lys
ENST00000693150.1:c.619G>A ENSP00000510309.1:p.Glu207Lys
ENST00000307102.10:c.763G>A MANE Select ENSP00000302486.5:p.Glu255Lys
ENST00000307102.9:c.763G>A ENSP00000302486.4:p.Glu255Lys
ENST00000566326.1:c.235G>A ENSP00000456438.1:p.Glu79Lys
NM_002755.3:c.763G>A , LRG_725t1:c.763G>A NP_002746.1:p.Glu255Lys
XM_011521783.1:c.697G>A XP_011520085.1:p.Glu233Lys
XM_011521783.3:c.697G>A XP_011520085.1:p.Glu233Lys
XM_017022411.2:c.685G>A XP_016877900.1:p.Glu229Lys
XM_017022412.1:c.619G>A XP_016877901.1:p.Glu207Lys
XM_017022413.1:c.235G>A XP_016877902.1:p.Glu79Lys
NM_002755.4:c.763G>A MANE Select NP_002746.1:p.Glu255Lys
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