Canonical Allele Identifier: CA392937280
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674955
MyVariant Identifiers: chr15:g.66777452T>A (hg19) chr15:g.66485114T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485114T>A , CM000677.2:g.66485114T>A GRCh38
NC_000015.9:g.66777452T>A , CM000677.1:g.66777452T>A GRCh37
NC_000015.8:g.64564506T>A NCBI36
NG_008305.1:g.103242T>A , LRG_725:g.103242T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2114T>A ENSP00000508681.1:n.628-2114T>A
ENST00000685172.1:c.818T>A ENSP00000509604.1:p.Leu273Gln
ENST00000685763.1:c.671T>A ENSP00000509016.1:p.Leu224Gln
ENST00000686347.1:c.569-2114T>A ENSP00000509027.1:n.569-2114T>A
ENST00000687191.1:n.1176T>A
ENST00000687481.1:n.233T>A
ENST00000689951.1:c.869T>A ENSP00000509308.1:p.Leu290Gln
ENST00000691077.1:c.*55T>A ENSP00000509843.1:n.*55T>A
ENST00000691576.1:c.689T>A ENSP00000510066.1:p.Leu230Gln
ENST00000691937.1:c.818T>A ENSP00000508768.1:p.Leu273Gln
ENST00000692487.1:c.*55T>A ENSP00000509534.1:n.*55T>A
ENST00000692683.1:c.752T>A ENSP00000508437.1:p.Leu251Gln
ENST00000693150.1:c.674T>A ENSP00000510309.1:p.Leu225Gln
ENST00000307102.10:c.818T>A MANE Select ENSP00000302486.5:p.Leu273Gln
ENST00000307102.9:c.818T>A ENSP00000302486.4:p.Leu273Gln
ENST00000566326.1:c.290T>A ENSP00000456438.1:p.Leu97Gln
NM_002755.3:c.818T>A , LRG_725t1:c.818T>A NP_002746.1:p.Leu273Gln
XM_011521783.1:c.752T>A XP_011520085.1:p.Leu251Gln
XM_011521783.3:c.752T>A XP_011520085.1:p.Leu251Gln
XM_017022411.2:c.740T>A XP_016877900.1:p.Leu247Gln
XM_017022412.1:c.674T>A XP_016877901.1:p.Leu225Gln
XM_017022413.1:c.290T>A XP_016877902.1:p.Leu97Gln
NM_002755.4:c.818T>A MANE Select NP_002746.1:p.Leu273Gln
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