Canonical Allele Identifier: CA392937052
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674289

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485053C>G , CM000677.2:g.66485053C>G GRCh38
NC_000015.9:g.66777391C>G , CM000677.1:g.66777391C>G GRCh37
NC_000015.8:g.64564445C>G NCBI36
NG_008305.1:g.103181C>G , LRG_725:g.103181C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2175C>G ENSP00000508681.1:n.628-2175C>G
ENST00000685172.1:c.757C>G ENSP00000509604.1:p.Leu253Val
ENST00000685763.1:c.610C>G ENSP00000509016.1:p.Leu204Val
ENST00000686347.1:c.569-2175C>G ENSP00000509027.1:n.569-2175C>G
ENST00000687191.1:n.1115C>G
ENST00000687481.1:n.172C>G
ENST00000689951.1:c.808C>G ENSP00000509308.1:p.Leu270Val
ENST00000691077.1:c.753C>G ENSP00000509843.1:p.Leu251=
ENST00000691576.1:c.628C>G ENSP00000510066.1:p.Leu210Val
ENST00000691937.1:c.757C>G ENSP00000508768.1:p.Leu253Val
ENST00000692487.1:c.753C>G ENSP00000509534.1:p.Leu251=
ENST00000692683.1:c.691C>G ENSP00000508437.1:p.Leu231Val
ENST00000693150.1:c.613C>G ENSP00000510309.1:p.Leu205Val
ENST00000307102.10:c.757C>G MANE Select ENSP00000302486.5:p.Leu253Val
ENST00000307102.9:c.757C>G ENSP00000302486.4:p.Leu253Val
ENST00000566326.1:c.229C>G ENSP00000456438.1:p.Leu77Val
NM_002755.3:c.757C>G , LRG_725t1:c.757C>G NP_002746.1:p.Leu253Val
XM_011521783.1:c.691C>G XP_011520085.1:p.Leu231Val
XM_011521783.3:c.691C>G XP_011520085.1:p.Leu231Val
XM_017022411.2:c.679C>G XP_016877900.1:p.Leu227Val
XM_017022412.1:c.613C>G XP_016877901.1:p.Leu205Val
XM_017022413.1:c.229C>G XP_016877902.1:p.Leu77Val
NM_002755.4:c.757C>G MANE Select NP_002746.1:p.Leu253Val