Canonical Allele Identifier: CA392937352
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs144080051

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485144C>G , CM000677.2:g.66485144C>G GRCh38
NC_000015.9:g.66777482C>G , CM000677.1:g.66777482C>G GRCh37
NC_000015.8:g.64564536C>G NCBI36
NG_008305.1:g.103272C>G , LRG_725:g.103272C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2084C>G ENSP00000508681.1:n.628-2084C>G
ENST00000685172.1:c.848C>G ENSP00000509604.1:p.Ala283Gly
ENST00000685763.1:c.701C>G ENSP00000509016.1:p.Ala234Gly
ENST00000686347.1:c.569-2084C>G ENSP00000509027.1:n.569-2084C>G
ENST00000687191.1:n.1206C>G
ENST00000687481.1:n.263C>G
ENST00000689951.1:c.899C>G ENSP00000509308.1:p.Ala300Gly
ENST00000691077.1:c.*85C>G ENSP00000509843.1:n.*85C>G
ENST00000691576.1:c.719C>G ENSP00000510066.1:p.Ala240Gly
ENST00000691937.1:c.848C>G ENSP00000508768.1:p.Ala283Gly
ENST00000692487.1:c.*85C>G ENSP00000509534.1:n.*85C>G
ENST00000692683.1:c.782C>G ENSP00000508437.1:p.Ala261Gly
ENST00000693150.1:c.704C>G ENSP00000510309.1:p.Ala235Gly
ENST00000307102.10:c.848C>G MANE Select ENSP00000302486.5:p.Ala283Gly
ENST00000307102.9:c.848C>G ENSP00000302486.4:p.Ala283Gly
ENST00000566326.1:c.320C>G ENSP00000456438.1:p.Ala107Gly
NM_002755.3:c.848C>G , LRG_725t1:c.848C>G NP_002746.1:p.Ala283Gly
XM_011521783.1:c.782C>G XP_011520085.1:p.Ala261Gly
XM_011521783.3:c.782C>G XP_011520085.1:p.Ala261Gly
XM_017022411.2:c.770C>G XP_016877900.1:p.Ala257Gly
XM_017022412.1:c.704C>G XP_016877901.1:p.Ala235Gly
XM_017022413.1:c.320C>G XP_016877902.1:p.Ala107Gly
NM_002755.4:c.848C>G MANE Select NP_002746.1:p.Ala283Gly