Canonical Allele Identifier: CA392936990
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320926
ClinVar RCV Id: RCV001776905
dbSNP Id: rs2140674116
MyVariant Identifiers: chr15:g.66777373T>C (hg19) chr15:g.66485035T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485035T>C , CM000677.2:g.66485035T>C GRCh38
NC_000015.9:g.66777373T>C , CM000677.1:g.66777373T>C GRCh37
NC_000015.8:g.64564427T>C NCBI36
NG_008305.1:g.103163T>C , LRG_725:g.103163T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2193T>C ENSP00000508681.1:n.628-2193T>C
ENST00000685172.1:c.739T>C ENSP00000509604.1:p.Trp247Arg
ENST00000685763.1:c.592T>C ENSP00000509016.1:p.Trp198Arg
ENST00000686347.1:c.569-2193T>C ENSP00000509027.1:n.569-2193T>C
ENST00000687191.1:n.1097T>C
ENST00000687481.1:n.154T>C
ENST00000689951.1:c.790T>C ENSP00000509308.1:p.Trp264Arg
ENST00000691077.1:c.735T>C ENSP00000509843.1:p.Ser245=
ENST00000691576.1:c.610T>C ENSP00000510066.1:p.Trp204Arg
ENST00000691937.1:c.739T>C ENSP00000508768.1:p.Trp247Arg
ENST00000692487.1:c.735T>C ENSP00000509534.1:p.Ser245=
ENST00000692683.1:c.673T>C ENSP00000508437.1:p.Trp225Arg
ENST00000693150.1:c.595T>C ENSP00000510309.1:p.Trp199Arg
ENST00000307102.10:c.739T>C MANE Select ENSP00000302486.5:p.Trp247Arg
ENST00000307102.9:c.739T>C ENSP00000302486.4:p.Trp247Arg
ENST00000566326.1:c.211T>C ENSP00000456438.1:p.Trp71Arg
NM_002755.3:c.739T>C , LRG_725t1:c.739T>C NP_002746.1:p.Trp247Arg
XM_011521783.1:c.673T>C XP_011520085.1:p.Trp225Arg
XM_011521783.3:c.673T>C XP_011520085.1:p.Trp225Arg
XM_017022411.2:c.661T>C XP_016877900.1:p.Trp221Arg
XM_017022412.1:c.595T>C XP_016877901.1:p.Trp199Arg
XM_017022413.1:c.211T>C XP_016877902.1:p.Trp71Arg
NM_002755.4:c.739T>C MANE Select NP_002746.1:p.Trp247Arg
Search 100 bp 5'
Search 100 bp 3'