Canonical Allele Identifier: CA490858495
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674311
MyVariant Identifiers: chr15:g.66777393G>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2173G>C ENSP00000508681.1:n.628-2173G>C
ENST00000685172.1:c.759G>C ENSP00000509604.1:p.Leu253=
ENST00000685763.1:c.612G>C ENSP00000509016.1:p.Leu204=
ENST00000686347.1:c.569-2173G>C ENSP00000509027.1:n.569-2173G>C
ENST00000687191.1:n.1117G>C
ENST00000687481.1:n.174G>C
ENST00000689951.1:c.810G>C ENSP00000509308.1:p.Leu270=
ENST00000691077.1:c.755G>C ENSP00000509843.1:p.Trp252Ser
ENST00000691576.1:c.630G>C ENSP00000510066.1:p.Leu210=
ENST00000691937.1:c.759G>C ENSP00000508768.1:p.Leu253=
ENST00000692487.1:c.755G>C ENSP00000509534.1:p.Trp252Ser
ENST00000692683.1:c.693G>C ENSP00000508437.1:p.Leu231=
ENST00000693150.1:c.615G>C ENSP00000510309.1:p.Leu205=
ENST00000307102.10:c.759G>C MANE Select ENSP00000302486.5:p.Leu253=
ENST00000307102.9:c.759G>C ENSP00000302486.4:p.Leu253=
ENST00000566326.1:c.231G>C ENSP00000456438.1:p.Leu77=
NM_002755.3:c.759G>C , LRG_725t1:c.759G>C NP_002746.1:p.Leu253=
XM_011521783.1:c.693G>C XP_011520085.1:p.Leu231=
XM_011521783.3:c.693G>C XP_011520085.1:p.Leu231=
XM_017022411.2:c.681G>C XP_016877900.1:p.Leu227=
XM_017022412.1:c.615G>C XP_016877901.1:p.Leu205=
XM_017022413.1:c.231G>C XP_016877902.1:p.Leu77=
NM_002755.4:c.759G>C MANE Select NP_002746.1:p.Leu253=