Canonical Allele Identifier: CA392936523
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677929
ClinVar RCV Id: RCV002224520
dbSNP Id: rs2140668342
MyVariant Identifiers: chr15:g.66774205G>T (hg19) chr15:g.66481867G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481867G>T , CM000677.2:g.66481867G>T GRCh38
NC_000015.9:g.66774205G>T , CM000677.1:g.66774205G>T GRCh37
NC_000015.8:g.64561259G>T NCBI36
NG_008305.1:g.99995G>T , LRG_725:g.99995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.615G>T ENSP00000508681.1:p.Arg205Ser
ENST00000685172.1:c.681G>T ENSP00000509604.1:p.Arg227Ser
ENST00000685763.1:c.534G>T ENSP00000509016.1:p.Arg178Ser
ENST00000686347.1:c.569-5361G>T ENSP00000509027.1:n.569-5361G>T
ENST00000687191.1:n.1039G>T
ENST00000689951.1:c.732G>T ENSP00000509308.1:p.Arg244Ser
ENST00000691077.1:c.681G>T ENSP00000509843.1:p.Arg227Ser
ENST00000691576.1:c.569-3127G>T ENSP00000510066.1:n.569-3127G>T
ENST00000691937.1:c.681G>T ENSP00000508768.1:p.Arg227Ser
ENST00000692487.1:c.681G>T ENSP00000509534.1:p.Arg227Ser
ENST00000692683.1:c.615G>T ENSP00000508437.1:p.Arg205Ser
ENST00000693150.1:c.537G>T ENSP00000510309.1:p.Arg179Ser
ENST00000307102.10:c.681G>T MANE Select ENSP00000302486.5:p.Arg227Ser
ENST00000307102.9:c.681G>T ENSP00000302486.4:p.Arg227Ser
ENST00000566326.1:c.153G>T ENSP00000456438.1:p.Arg51Ser
NM_002755.3:c.681G>T , LRG_725t1:c.681G>T NP_002746.1:p.Arg227Ser
XM_011521783.1:c.615G>T XP_011520085.1:p.Arg205Ser
XM_011521783.3:c.615G>T XP_011520085.1:p.Arg205Ser
XM_017022411.2:c.603G>T XP_016877900.1:p.Arg201Ser
XM_017022412.1:c.537G>T XP_016877901.1:p.Arg179Ser
XM_017022413.1:c.153G>T XP_016877902.1:p.Arg51Ser
NM_002755.4:c.681G>T MANE Select NP_002746.1:p.Arg227Ser
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