Canonical Allele Identifier: CA134607
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 44590
dbSNP Id: rs148968935

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481834C>T , CM000677.2:g.66481834C>T GRCh38
NC_000015.9:g.66774172C>T , CM000677.1:g.66774172C>T GRCh37
NC_000015.8:g.64561226C>T NCBI36
NG_008305.1:g.99962C>T , LRG_725:g.99962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.582C>T ENSP00000508681.1:p.Ile194=
ENST00000685172.1:c.648C>T ENSP00000509604.1:p.Ile216=
ENST00000685763.1:c.501C>T ENSP00000509016.1:p.Ile167=
ENST00000686347.1:c.569-5394C>T ENSP00000509027.1:n.569-5394C>T
ENST00000687191.1:n.1006C>T
ENST00000689951.1:c.699C>T ENSP00000509308.1:p.Ile233=
ENST00000691077.1:c.648C>T ENSP00000509843.1:p.Ile216=
ENST00000691576.1:c.569-3160C>T ENSP00000510066.1:n.569-3160C>T
ENST00000691937.1:c.648C>T ENSP00000508768.1:p.Ile216=
ENST00000692487.1:c.648C>T ENSP00000509534.1:p.Ile216=
ENST00000692683.1:c.582C>T ENSP00000508437.1:p.Ile194=
ENST00000693150.1:c.504C>T ENSP00000510309.1:p.Ile168=
ENST00000307102.10:c.648C>T MANE Select ENSP00000302486.5:p.Ile216=
ENST00000307102.9:c.648C>T ENSP00000302486.4:p.Ile216=
ENST00000566326.1:c.120C>T ENSP00000456438.1:p.Ile40=
NM_002755.3:c.648C>T , LRG_725t1:c.648C>T NP_002746.1:p.Ile216=
XM_011521783.1:c.582C>T XP_011520085.1:p.Ile194=
XM_011521783.3:c.582C>T XP_011520085.1:p.Ile194=
XM_017022411.2:c.570C>T XP_016877900.1:p.Ile190=
XM_017022412.1:c.504C>T XP_016877901.1:p.Ile168=
XM_017022413.1:c.120C>T XP_016877902.1:p.Ile40=
NM_002755.4:c.648C>T MANE Select NP_002746.1:p.Ile216=