Canonical Allele Identifier: CA392937180
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674691
MyVariant Identifiers: chr15:g.66777421A>T (hg19) chr15:g.66485083A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485083A>T , CM000677.2:g.66485083A>T GRCh38
NC_000015.9:g.66777421A>T , CM000677.1:g.66777421A>T GRCh37
NC_000015.8:g.64564475A>T NCBI36
NG_008305.1:g.103211A>T , LRG_725:g.103211A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2145A>T ENSP00000508681.1:n.628-2145A>T
ENST00000685172.1:c.787A>T ENSP00000509604.1:p.Ile263Phe
ENST00000685763.1:c.640A>T ENSP00000509016.1:p.Ile214Phe
ENST00000686347.1:c.569-2145A>T ENSP00000509027.1:n.569-2145A>T
ENST00000687191.1:n.1145A>T
ENST00000687481.1:n.202A>T
ENST00000689951.1:c.838A>T ENSP00000509308.1:p.Ile280Phe
ENST00000691077.1:c.*24A>T ENSP00000509843.1:n.*24A>T
ENST00000691576.1:c.658A>T ENSP00000510066.1:p.Ile220Phe
ENST00000691937.1:c.787A>T ENSP00000508768.1:p.Ile263Phe
ENST00000692487.1:c.*24A>T ENSP00000509534.1:n.*24A>T
ENST00000692683.1:c.721A>T ENSP00000508437.1:p.Ile241Phe
ENST00000693150.1:c.643A>T ENSP00000510309.1:p.Ile215Phe
ENST00000307102.10:c.787A>T MANE Select ENSP00000302486.5:p.Ile263Phe
ENST00000307102.9:c.787A>T ENSP00000302486.4:p.Ile263Phe
ENST00000566326.1:c.259A>T ENSP00000456438.1:p.Ile87Phe
NM_002755.3:c.787A>T , LRG_725t1:c.787A>T NP_002746.1:p.Ile263Phe
XM_011521783.1:c.721A>T XP_011520085.1:p.Ile241Phe
XM_011521783.3:c.721A>T XP_011520085.1:p.Ile241Phe
XM_017022411.2:c.709A>T XP_016877900.1:p.Ile237Phe
XM_017022412.1:c.643A>T XP_016877901.1:p.Ile215Phe
XM_017022413.1:c.259A>T XP_016877902.1:p.Ile87Phe
NM_002755.4:c.787A>T MANE Select NP_002746.1:p.Ile263Phe
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