Canonical Allele Identifier: CA392936118
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140667372
MyVariant Identifiers: chr15:g.66774110A>T (hg19) chr15:g.66481772A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481772A>T , CM000677.2:g.66481772A>T GRCh38
NC_000015.9:g.66774110A>T , CM000677.1:g.66774110A>T GRCh37
NC_000015.8:g.64561164A>T NCBI36
NG_008305.1:g.99900A>T , LRG_725:g.99900A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.520A>T ENSP00000508681.1:p.Ile174Phe
ENST00000685172.1:c.586A>T ENSP00000509604.1:p.Ile196Phe
ENST00000685763.1:c.439A>T ENSP00000509016.1:p.Ile147Phe
ENST00000686347.1:c.569-5456A>T ENSP00000509027.1:n.569-5456A>T
ENST00000687191.1:n.944A>T
ENST00000689951.1:c.637A>T ENSP00000509308.1:p.Ile213Phe
ENST00000691077.1:c.586A>T ENSP00000509843.1:p.Ile196Phe
ENST00000691576.1:c.569-3222A>T ENSP00000510066.1:n.569-3222A>T
ENST00000691937.1:c.586A>T ENSP00000508768.1:p.Ile196Phe
ENST00000692487.1:c.586A>T ENSP00000509534.1:p.Ile196Phe
ENST00000692683.1:c.520A>T ENSP00000508437.1:p.Ile174Phe
ENST00000693150.1:c.442A>T ENSP00000510309.1:p.Ile148Phe
ENST00000307102.10:c.586A>T MANE Select ENSP00000302486.5:p.Ile196Phe
ENST00000307102.9:c.586A>T ENSP00000302486.4:p.Ile196Phe
ENST00000566326.1:c.58A>T ENSP00000456438.1:p.Ile20Phe
NM_002755.3:c.586A>T , LRG_725t1:c.586A>T NP_002746.1:p.Ile196Phe
XM_011521783.1:c.520A>T XP_011520085.1:p.Ile174Phe
XM_011521783.3:c.520A>T XP_011520085.1:p.Ile174Phe
XM_017022411.2:c.508A>T XP_016877900.1:p.Ile170Phe
XM_017022412.1:c.442A>T XP_016877901.1:p.Ile148Phe
XM_017022413.1:c.58A>T XP_016877902.1:p.Ile20Phe
NM_002755.4:c.586A>T MANE Select NP_002746.1:p.Ile196Phe
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