Canonical Allele Identifier: CA392936970
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1878870
ClinVar RCV Id: RCV002511371
dbSNP Id: rs730880507

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485026T>A , CM000677.2:g.66485026T>A GRCh38
NC_000015.9:g.66777364T>A , CM000677.1:g.66777364T>A GRCh37
NC_000015.8:g.64564418T>A NCBI36
NG_008305.1:g.103154T>A , LRG_725:g.103154T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2202T>A ENSP00000508681.1:n.628-2202T>A
ENST00000685172.1:c.730T>A ENSP00000509604.1:p.Ser244Thr
ENST00000685763.1:c.583T>A ENSP00000509016.1:p.Ser195Thr
ENST00000686347.1:c.569-2202T>A ENSP00000509027.1:n.569-2202T>A
ENST00000687191.1:n.1088T>A
ENST00000687481.1:n.145T>A
ENST00000689951.1:c.781T>A ENSP00000509308.1:p.Ser261Thr
ENST00000691077.1:c.726T>A ENSP00000509843.1:p.Ser242Arg
ENST00000691576.1:c.601T>A ENSP00000510066.1:p.Ser201Thr
ENST00000691937.1:c.730T>A ENSP00000508768.1:p.Ser244Thr
ENST00000692487.1:c.726T>A ENSP00000509534.1:p.Ser242Arg
ENST00000692683.1:c.664T>A ENSP00000508437.1:p.Ser222Thr
ENST00000693150.1:c.586T>A ENSP00000510309.1:p.Ser196Thr
ENST00000307102.10:c.730T>A MANE Select ENSP00000302486.5:p.Ser244Thr
ENST00000307102.9:c.730T>A ENSP00000302486.4:p.Ser244Thr
ENST00000566326.1:c.202T>A ENSP00000456438.1:p.Ser68Thr
NM_002755.3:c.730T>A , LRG_725t1:c.730T>A NP_002746.1:p.Ser244Thr
XM_011521783.1:c.664T>A XP_011520085.1:p.Ser222Thr
XM_011521783.3:c.664T>A XP_011520085.1:p.Ser222Thr
XM_017022411.2:c.652T>A XP_016877900.1:p.Ser218Thr
XM_017022412.1:c.586T>A XP_016877901.1:p.Ser196Thr
XM_017022413.1:c.202T>A XP_016877902.1:p.Ser68Thr
NM_002755.4:c.730T>A MANE Select NP_002746.1:p.Ser244Thr