Canonical Allele Identifier: CA392936952
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485017T>G , CM000677.2:g.66485017T>G GRCh38
NC_000015.9:g.66777355T>G , CM000677.1:g.66777355T>G GRCh37
NC_000015.8:g.64564409T>G NCBI36
NG_008305.1:g.103145T>G , LRG_725:g.103145T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2211T>G ENSP00000508681.1:n.628-2211T>G
ENST00000685172.1:c.721T>G ENSP00000509604.1:p.Ser241Ala
ENST00000685763.1:c.574T>G ENSP00000509016.1:p.Ser192Ala
ENST00000686347.1:c.569-2211T>G ENSP00000509027.1:n.569-2211T>G
ENST00000687191.1:n.1079T>G
ENST00000687481.1:n.136T>G
ENST00000689951.1:c.772T>G ENSP00000509308.1:p.Ser258Ala
ENST00000691077.1:c.717T>G ENSP00000509843.1:p.Thr239=
ENST00000691576.1:c.592T>G ENSP00000510066.1:p.Ser198Ala
ENST00000691937.1:c.721T>G ENSP00000508768.1:p.Ser241Ala
ENST00000692487.1:c.717T>G ENSP00000509534.1:p.Thr239=
ENST00000692683.1:c.655T>G ENSP00000508437.1:p.Ser219Ala
ENST00000693150.1:c.577T>G ENSP00000510309.1:p.Ser193Ala
ENST00000307102.10:c.721T>G MANE Select ENSP00000302486.5:p.Ser241Ala
ENST00000307102.9:c.721T>G ENSP00000302486.4:p.Ser241Ala
ENST00000566326.1:c.193T>G ENSP00000456438.1:p.Ser65Ala
NM_002755.3:c.721T>G , LRG_725t1:c.721T>G NP_002746.1:p.Ser241Ala
XM_011521783.1:c.655T>G XP_011520085.1:p.Ser219Ala
XM_011521783.3:c.655T>G XP_011520085.1:p.Ser219Ala
XM_017022411.2:c.643T>G XP_016877900.1:p.Ser215Ala
XM_017022412.1:c.577T>G XP_016877901.1:p.Ser193Ala
XM_017022413.1:c.193T>G XP_016877902.1:p.Ser65Ala
NM_002755.4:c.721T>G MANE Select NP_002746.1:p.Ser241Ala