Canonical Allele Identifier: CA392937342
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs780066304

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485140G>C , CM000677.2:g.66485140G>C GRCh38
NC_000015.9:g.66777478G>C , CM000677.1:g.66777478G>C GRCh37
NC_000015.8:g.64564532G>C NCBI36
NG_008305.1:g.103268G>C , LRG_725:g.103268G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2088G>C ENSP00000508681.1:n.628-2088G>C
ENST00000685172.1:c.844G>C ENSP00000509604.1:p.Asp282His
ENST00000685763.1:c.697G>C ENSP00000509016.1:p.Asp233His
ENST00000686347.1:c.569-2088G>C ENSP00000509027.1:n.569-2088G>C
ENST00000687191.1:n.1202G>C
ENST00000687481.1:n.259G>C
ENST00000689951.1:c.895G>C ENSP00000509308.1:p.Asp299His
ENST00000691077.1:c.*81G>C ENSP00000509843.1:n.*81G>C
ENST00000691576.1:c.715G>C ENSP00000510066.1:p.Asp239His
ENST00000691937.1:c.844G>C ENSP00000508768.1:p.Asp282His
ENST00000692487.1:c.*81G>C ENSP00000509534.1:n.*81G>C
ENST00000692683.1:c.778G>C ENSP00000508437.1:p.Asp260His
ENST00000693150.1:c.700G>C ENSP00000510309.1:p.Asp234His
ENST00000307102.10:c.844G>C MANE Select ENSP00000302486.5:p.Asp282His
ENST00000307102.9:c.844G>C ENSP00000302486.4:p.Asp282His
ENST00000566326.1:c.316G>C ENSP00000456438.1:p.Asp106His
NM_002755.3:c.844G>C , LRG_725t1:c.844G>C NP_002746.1:p.Asp282His
XM_011521783.1:c.778G>C XP_011520085.1:p.Asp260His
XM_011521783.3:c.778G>C XP_011520085.1:p.Asp260His
XM_017022411.2:c.766G>C XP_016877900.1:p.Asp256His
XM_017022412.1:c.700G>C XP_016877901.1:p.Asp234His
XM_017022413.1:c.316G>C XP_016877902.1:p.Asp106His
NM_002755.4:c.844G>C MANE Select NP_002746.1:p.Asp282His