Canonical Allele Identifier: CA392937401
Gene: MAP2K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485169G>C , CM000677.2:g.66485169G>C GRCh38
NC_000015.9:g.66777507G>C , CM000677.1:g.66777507G>C GRCh37
NC_000015.8:g.64564561G>C NCBI36
NG_008305.1:g.103297G>C , LRG_725:g.103297G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2059G>C ENSP00000508681.1:n.628-2059G>C
ENST00000685172.1:c.873G>C ENSP00000509604.1:p.Arg291Ser
ENST00000685763.1:c.726G>C ENSP00000509016.1:p.Arg242Ser
ENST00000686347.1:c.569-2059G>C ENSP00000509027.1:n.569-2059G>C
ENST00000687191.1:n.1231G>C
ENST00000687481.1:n.288G>C
ENST00000689951.1:c.924G>C ENSP00000509308.1:p.Arg308Ser
ENST00000691077.1:c.*110G>C ENSP00000509843.1:n.*110G>C
ENST00000691576.1:c.744G>C ENSP00000510066.1:p.Arg248Ser
ENST00000691937.1:c.873G>C ENSP00000508768.1:p.Arg291Ser
ENST00000692487.1:c.*110G>C ENSP00000509534.1:n.*110G>C
ENST00000692683.1:c.807G>C ENSP00000508437.1:p.Arg269Ser
ENST00000693150.1:c.729G>C ENSP00000510309.1:p.Arg243Ser
ENST00000307102.10:c.873G>C MANE Select ENSP00000302486.5:p.Arg291Ser
ENST00000307102.9:c.873G>C ENSP00000302486.4:p.Arg291Ser
ENST00000566326.1:c.345G>C ENSP00000456438.1:p.Arg115Ser
NM_002755.3:c.873G>C , LRG_725t1:c.873G>C NP_002746.1:p.Arg291Ser
XM_011521783.1:c.807G>C XP_011520085.1:p.Arg269Ser
XM_011521783.3:c.807G>C XP_011520085.1:p.Arg269Ser
XM_017022411.2:c.795G>C XP_016877900.1:p.Arg265Ser
XM_017022412.1:c.729G>C XP_016877901.1:p.Arg243Ser
XM_017022413.1:c.345G>C XP_016877902.1:p.Arg115Ser
NM_002755.4:c.873G>C MANE Select NP_002746.1:p.Arg291Ser