Canonical Allele Identifier: CA392937106
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674446

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485065G>C , CM000677.2:g.66485065G>C GRCh38
NC_000015.9:g.66777403G>C , CM000677.1:g.66777403G>C GRCh37
NC_000015.8:g.64564457G>C NCBI36
NG_008305.1:g.103193G>C , LRG_725:g.103193G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2163G>C ENSP00000508681.1:n.628-2163G>C
ENST00000685172.1:c.769G>C ENSP00000509604.1:p.Ala257Pro
ENST00000685763.1:c.622G>C ENSP00000509016.1:p.Ala208Pro
ENST00000686347.1:c.569-2163G>C ENSP00000509027.1:n.569-2163G>C
ENST00000687191.1:n.1127G>C
ENST00000687481.1:n.184G>C
ENST00000689951.1:c.820G>C ENSP00000509308.1:p.Ala274Pro
ENST00000691077.1:c.*6G>C ENSP00000509843.1:n.*6G>C
ENST00000691576.1:c.640G>C ENSP00000510066.1:p.Ala214Pro
ENST00000691937.1:c.769G>C ENSP00000508768.1:p.Ala257Pro
ENST00000692487.1:c.*6G>C ENSP00000509534.1:n.*6G>C
ENST00000692683.1:c.703G>C ENSP00000508437.1:p.Ala235Pro
ENST00000693150.1:c.625G>C ENSP00000510309.1:p.Ala209Pro
ENST00000307102.10:c.769G>C MANE Select ENSP00000302486.5:p.Ala257Pro
ENST00000307102.9:c.769G>C ENSP00000302486.4:p.Ala257Pro
ENST00000566326.1:c.241G>C ENSP00000456438.1:p.Ala81Pro
NM_002755.3:c.769G>C , LRG_725t1:c.769G>C NP_002746.1:p.Ala257Pro
XM_011521783.1:c.703G>C XP_011520085.1:p.Ala235Pro
XM_011521783.3:c.703G>C XP_011520085.1:p.Ala235Pro
XM_017022411.2:c.691G>C XP_016877900.1:p.Ala231Pro
XM_017022412.1:c.625G>C XP_016877901.1:p.Ala209Pro
XM_017022413.1:c.241G>C XP_016877902.1:p.Ala81Pro
NM_002755.4:c.769G>C MANE Select NP_002746.1:p.Ala257Pro