Canonical Allele Identifier: CA392937409
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140675433
MyVariant Identifiers: chr15:g.66777512C>A (hg19) chr15:g.66485174C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485174C>A , CM000677.2:g.66485174C>A GRCh38
NC_000015.9:g.66777512C>A , CM000677.1:g.66777512C>A GRCh37
NC_000015.8:g.64564566C>A NCBI36
NG_008305.1:g.103302C>A , LRG_725:g.103302C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2054C>A ENSP00000508681.1:n.628-2054C>A
ENST00000685172.1:c.878C>A ENSP00000509604.1:p.Pro293His
ENST00000685763.1:c.731C>A ENSP00000509016.1:p.Pro244His
ENST00000686347.1:c.569-2054C>A ENSP00000509027.1:n.569-2054C>A
ENST00000687191.1:n.1236C>A
ENST00000687481.1:n.293C>A
ENST00000689951.1:c.929C>A ENSP00000509308.1:p.Pro310His
ENST00000691077.1:c.*115C>A ENSP00000509843.1:n.*115C>A
ENST00000691576.1:c.749C>A ENSP00000510066.1:p.Pro250His
ENST00000691937.1:c.878C>A ENSP00000508768.1:p.Pro293His
ENST00000692487.1:c.*115C>A ENSP00000509534.1:n.*115C>A
ENST00000692683.1:c.812C>A ENSP00000508437.1:p.Pro271His
ENST00000693150.1:c.734C>A ENSP00000510309.1:p.Pro245His
ENST00000307102.10:c.878C>A MANE Select ENSP00000302486.5:p.Pro293His
ENST00000307102.9:c.878C>A ENSP00000302486.4:p.Pro293His
ENST00000566326.1:c.350C>A ENSP00000456438.1:p.Pro117His
NM_002755.3:c.878C>A , LRG_725t1:c.878C>A NP_002746.1:p.Pro293His
XM_011521783.1:c.812C>A XP_011520085.1:p.Pro271His
XM_011521783.3:c.812C>A XP_011520085.1:p.Pro271His
XM_017022411.2:c.800C>A XP_016877900.1:p.Pro267His
XM_017022412.1:c.734C>A XP_016877901.1:p.Pro245His
XM_017022413.1:c.350C>A XP_016877902.1:p.Pro117His
NM_002755.4:c.878C>A MANE Select NP_002746.1:p.Pro293His
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