Canonical Allele Identifier: CA392937416
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485177G>C , CM000677.2:g.66485177G>C GRCh38
NC_000015.9:g.66777515G>C , CM000677.1:g.66777515G>C GRCh37
NC_000015.8:g.64564569G>C NCBI36
NG_008305.1:g.103305G>C , LRG_725:g.103305G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2051G>C ENSP00000508681.1:n.628-2051G>C
ENST00000685172.1:c.881G>C ENSP00000509604.1:p.Gly294Ala
ENST00000685763.1:c.734G>C ENSP00000509016.1:p.Gly245Ala
ENST00000686347.1:c.569-2051G>C ENSP00000509027.1:n.569-2051G>C
ENST00000687191.1:n.1239G>C
ENST00000687481.1:n.296G>C
ENST00000689951.1:c.932G>C ENSP00000509308.1:p.Gly311Ala
ENST00000691077.1:c.*118G>C ENSP00000509843.1:n.*118G>C
ENST00000691576.1:c.752G>C ENSP00000510066.1:p.Gly251Ala
ENST00000691937.1:c.881G>C ENSP00000508768.1:p.Gly294Ala
ENST00000692487.1:c.*118G>C ENSP00000509534.1:n.*118G>C
ENST00000692683.1:c.815G>C ENSP00000508437.1:p.Gly272Ala
ENST00000693150.1:c.737G>C ENSP00000510309.1:p.Gly246Ala
ENST00000307102.10:c.881G>C MANE Select ENSP00000302486.5:p.Gly294Ala
ENST00000307102.9:c.881G>C ENSP00000302486.4:p.Gly294Ala
ENST00000566326.1:c.353G>C ENSP00000456438.1:p.Gly118Ala
NM_002755.3:c.881G>C , LRG_725t1:c.881G>C NP_002746.1:p.Gly294Ala
XM_011521783.1:c.815G>C XP_011520085.1:p.Gly272Ala
XM_011521783.3:c.815G>C XP_011520085.1:p.Gly272Ala
XM_017022411.2:c.803G>C XP_016877900.1:p.Gly268Ala
XM_017022412.1:c.737G>C XP_016877901.1:p.Gly246Ala
XM_017022413.1:c.353G>C XP_016877902.1:p.Gly118Ala
NM_002755.4:c.881G>C MANE Select NP_002746.1:p.Gly294Ala