Canonical Allele Identifier: CA392936949
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140673917
MyVariant Identifiers: chr15:g.66777353A>T (hg19) chr15:g.66485015A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485015A>T , CM000677.2:g.66485015A>T GRCh38
NC_000015.9:g.66777353A>T , CM000677.1:g.66777353A>T GRCh37
NC_000015.8:g.64564407A>T NCBI36
NG_008305.1:g.103143A>T , LRG_725:g.103143A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2213A>T ENSP00000508681.1:n.628-2213A>T
ENST00000685172.1:c.719A>T ENSP00000509604.1:p.Tyr240Phe
ENST00000685763.1:c.572A>T ENSP00000509016.1:p.Tyr191Phe
ENST00000686347.1:c.569-2213A>T ENSP00000509027.1:n.569-2213A>T
ENST00000687191.1:n.1077A>T
ENST00000687481.1:n.134A>T
ENST00000689951.1:c.770A>T ENSP00000509308.1:p.Tyr257Phe
ENST00000691077.1:c.715A>T ENSP00000509843.1:p.Thr239Ser
ENST00000691576.1:c.590A>T ENSP00000510066.1:p.Tyr197Phe
ENST00000691937.1:c.719A>T ENSP00000508768.1:p.Tyr240Phe
ENST00000692487.1:c.715A>T ENSP00000509534.1:p.Thr239Ser
ENST00000692683.1:c.653A>T ENSP00000508437.1:p.Tyr218Phe
ENST00000693150.1:c.575A>T ENSP00000510309.1:p.Tyr192Phe
ENST00000307102.10:c.719A>T MANE Select ENSP00000302486.5:p.Tyr240Phe
ENST00000307102.9:c.719A>T ENSP00000302486.4:p.Tyr240Phe
ENST00000566326.1:c.191A>T ENSP00000456438.1:p.Tyr64Phe
NM_002755.3:c.719A>T , LRG_725t1:c.719A>T NP_002746.1:p.Tyr240Phe
XM_011521783.1:c.653A>T XP_011520085.1:p.Tyr218Phe
XM_011521783.3:c.653A>T XP_011520085.1:p.Tyr218Phe
XM_017022411.2:c.641A>T XP_016877900.1:p.Tyr214Phe
XM_017022412.1:c.575A>T XP_016877901.1:p.Tyr192Phe
XM_017022413.1:c.191A>T XP_016877902.1:p.Tyr64Phe
NM_002755.4:c.719A>T MANE Select NP_002746.1:p.Tyr240Phe
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