Canonical Allele Identifier: CA392936059
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140667252

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481758T>A , CM000677.2:g.66481758T>A GRCh38
NC_000015.9:g.66774096T>A , CM000677.1:g.66774096T>A GRCh37
NC_000015.8:g.64561150T>A NCBI36
NG_008305.1:g.99886T>A , LRG_725:g.99886T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.506T>A ENSP00000508681.1:p.Val169Asp
ENST00000685172.1:c.572T>A ENSP00000509604.1:p.Val191Asp
ENST00000685763.1:c.425T>A ENSP00000509016.1:p.Val142Asp
ENST00000686347.1:c.569-5470T>A ENSP00000509027.1:n.569-5470T>A
ENST00000687191.1:n.930T>A
ENST00000689951.1:c.623T>A ENSP00000509308.1:p.Val208Asp
ENST00000691077.1:c.572T>A ENSP00000509843.1:p.Val191Asp
ENST00000691576.1:c.569-3236T>A ENSP00000510066.1:n.569-3236T>A
ENST00000691937.1:c.572T>A ENSP00000508768.1:p.Val191Asp
ENST00000692487.1:c.572T>A ENSP00000509534.1:p.Val191Asp
ENST00000692683.1:c.506T>A ENSP00000508437.1:p.Val169Asp
ENST00000693150.1:c.428T>A ENSP00000510309.1:p.Val143Asp
ENST00000307102.10:c.572T>A MANE Select ENSP00000302486.5:p.Val191Asp
ENST00000307102.9:c.572T>A ENSP00000302486.4:p.Val191Asp
ENST00000566326.1:c.44T>A ENSP00000456438.1:p.Val15Asp
NM_002755.3:c.572T>A , LRG_725t1:c.572T>A NP_002746.1:p.Val191Asp
XM_011521783.1:c.506T>A XP_011520085.1:p.Val169Asp
XM_011521783.3:c.506T>A XP_011520085.1:p.Val169Asp
XM_017022411.2:c.494T>A XP_016877900.1:p.Val165Asp
XM_017022412.1:c.428T>A XP_016877901.1:p.Val143Asp
XM_017022413.1:c.44T>A XP_016877902.1:p.Val15Asp
NM_002755.4:c.572T>A MANE Select NP_002746.1:p.Val191Asp