Canonical Allele Identifier: CA490858497
Gene: MAP2K1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.66777393G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485055G>T , CM000677.2:g.66485055G>T GRCh38
NC_000015.9:g.66777393G>T , CM000677.1:g.66777393G>T GRCh37
NC_000015.8:g.64564447G>T NCBI36
NG_008305.1:g.103183G>T , LRG_725:g.103183G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2173G>T ENSP00000508681.1:n.628-2173G>T
ENST00000685172.1:c.759G>T ENSP00000509604.1:p.Leu253=
ENST00000685763.1:c.612G>T ENSP00000509016.1:p.Leu204=
ENST00000686347.1:c.569-2173G>T ENSP00000509027.1:n.569-2173G>T
ENST00000687191.1:n.1117G>T
ENST00000687481.1:n.174G>T
ENST00000689951.1:c.810G>T ENSP00000509308.1:p.Leu270=
ENST00000691077.1:c.755G>T ENSP00000509843.1:p.Trp252Leu
ENST00000691576.1:c.630G>T ENSP00000510066.1:p.Leu210=
ENST00000691937.1:c.759G>T ENSP00000508768.1:p.Leu253=
ENST00000692487.1:c.755G>T ENSP00000509534.1:p.Trp252Leu
ENST00000692683.1:c.693G>T ENSP00000508437.1:p.Leu231=
ENST00000693150.1:c.615G>T ENSP00000510309.1:p.Leu205=
ENST00000307102.10:c.759G>T MANE Select ENSP00000302486.5:p.Leu253=
ENST00000307102.9:c.759G>T ENSP00000302486.4:p.Leu253=
ENST00000566326.1:c.231G>T ENSP00000456438.1:p.Leu77=
NM_002755.3:c.759G>T , LRG_725t1:c.759G>T NP_002746.1:p.Leu253=
XM_011521783.1:c.693G>T XP_011520085.1:p.Leu231=
XM_011521783.3:c.693G>T XP_011520085.1:p.Leu231=
XM_017022411.2:c.681G>T XP_016877900.1:p.Leu227=
XM_017022412.1:c.615G>T XP_016877901.1:p.Leu205=
XM_017022413.1:c.231G>T XP_016877902.1:p.Leu77=
NM_002755.4:c.759G>T MANE Select NP_002746.1:p.Leu253=
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