Canonical Allele Identifier: CA392937271
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674924

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485110G>C , CM000677.2:g.66485110G>C GRCh38
NC_000015.9:g.66777448G>C , CM000677.1:g.66777448G>C GRCh37
NC_000015.8:g.64564502G>C NCBI36
NG_008305.1:g.103238G>C , LRG_725:g.103238G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2118G>C ENSP00000508681.1:n.628-2118G>C
ENST00000685172.1:c.814G>C ENSP00000509604.1:p.Glu272Gln
ENST00000685763.1:c.667G>C ENSP00000509016.1:p.Glu223Gln
ENST00000686347.1:c.569-2118G>C ENSP00000509027.1:n.569-2118G>C
ENST00000687191.1:n.1172G>C
ENST00000687481.1:n.229G>C
ENST00000689951.1:c.865G>C ENSP00000509308.1:p.Glu289Gln
ENST00000691077.1:c.*51G>C ENSP00000509843.1:n.*51G>C
ENST00000691576.1:c.685G>C ENSP00000510066.1:p.Glu229Gln
ENST00000691937.1:c.814G>C ENSP00000508768.1:p.Glu272Gln
ENST00000692487.1:c.*51G>C ENSP00000509534.1:n.*51G>C
ENST00000692683.1:c.748G>C ENSP00000508437.1:p.Glu250Gln
ENST00000693150.1:c.670G>C ENSP00000510309.1:p.Glu224Gln
ENST00000307102.10:c.814G>C MANE Select ENSP00000302486.5:p.Glu272Gln
ENST00000307102.9:c.814G>C ENSP00000302486.4:p.Glu272Gln
ENST00000566326.1:c.286G>C ENSP00000456438.1:p.Glu96Gln
NM_002755.3:c.814G>C , LRG_725t1:c.814G>C NP_002746.1:p.Glu272Gln
XM_011521783.1:c.748G>C XP_011520085.1:p.Glu250Gln
XM_011521783.3:c.748G>C XP_011520085.1:p.Glu250Gln
XM_017022411.2:c.736G>C XP_016877900.1:p.Glu246Gln
XM_017022412.1:c.670G>C XP_016877901.1:p.Glu224Gln
XM_017022413.1:c.286G>C XP_016877902.1:p.Glu96Gln
NM_002755.4:c.814G>C MANE Select NP_002746.1:p.Glu272Gln