Canonical Allele Identifier: CA392937175
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674665

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485081C>T , CM000677.2:g.66485081C>T GRCh38
NC_000015.9:g.66777419C>T , CM000677.1:g.66777419C>T GRCh37
NC_000015.8:g.64564473C>T NCBI36
NG_008305.1:g.103209C>T , LRG_725:g.103209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2147C>T ENSP00000508681.1:n.628-2147C>T
ENST00000685172.1:c.785C>T ENSP00000509604.1:p.Pro262Leu
ENST00000685763.1:c.638C>T ENSP00000509016.1:p.Pro213Leu
ENST00000686347.1:c.569-2147C>T ENSP00000509027.1:n.569-2147C>T
ENST00000687191.1:n.1143C>T
ENST00000687481.1:n.200C>T
ENST00000689951.1:c.836C>T ENSP00000509308.1:p.Pro279Leu
ENST00000691077.1:c.*22C>T ENSP00000509843.1:n.*22C>T
ENST00000691576.1:c.656C>T ENSP00000510066.1:p.Pro219Leu
ENST00000691937.1:c.785C>T ENSP00000508768.1:p.Pro262Leu
ENST00000692487.1:c.*22C>T ENSP00000509534.1:n.*22C>T
ENST00000692683.1:c.719C>T ENSP00000508437.1:p.Pro240Leu
ENST00000693150.1:c.641C>T ENSP00000510309.1:p.Pro214Leu
ENST00000307102.10:c.785C>T MANE Select ENSP00000302486.5:p.Pro262Leu
ENST00000307102.9:c.785C>T ENSP00000302486.4:p.Pro262Leu
ENST00000566326.1:c.257C>T ENSP00000456438.1:p.Pro86Leu
NM_002755.3:c.785C>T , LRG_725t1:c.785C>T NP_002746.1:p.Pro262Leu
XM_011521783.1:c.719C>T XP_011520085.1:p.Pro240Leu
XM_011521783.3:c.719C>T XP_011520085.1:p.Pro240Leu
XM_017022411.2:c.707C>T XP_016877900.1:p.Pro236Leu
XM_017022412.1:c.641C>T XP_016877901.1:p.Pro214Leu
XM_017022413.1:c.257C>T XP_016877902.1:p.Pro86Leu
NM_002755.4:c.785C>T MANE Select NP_002746.1:p.Pro262Leu