Canonical Allele Identifier: CA490858500
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs2140674350
MyVariant Identifiers: chr15:g.66777396A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485058A>G , CM000677.2:g.66485058A>G GRCh38
NC_000015.9:g.66777396A>G , CM000677.1:g.66777396A>G GRCh37
NC_000015.8:g.64564450A>G NCBI36
NG_008305.1:g.103186A>G , LRG_725:g.103186A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.628-2170A>G ENSP00000508681.1:n.628-2170A>G
ENST00000685172.1:c.762A>G ENSP00000509604.1:p.Val254=
ENST00000685763.1:c.615A>G ENSP00000509016.1:p.Val205=
ENST00000686347.1:c.569-2170A>G ENSP00000509027.1:n.569-2170A>G
ENST00000687191.1:n.1120A>G
ENST00000687481.1:n.177A>G
ENST00000689951.1:c.813A>G ENSP00000509308.1:p.Val271=
ENST00000691077.1:c.758A>G ENSP00000509843.1:p.Ter253Trp
ENST00000691576.1:c.633A>G ENSP00000510066.1:p.Val211=
ENST00000691937.1:c.762A>G ENSP00000508768.1:p.Val254=
ENST00000692487.1:c.758A>G ENSP00000509534.1:p.Ter253Trp
ENST00000692683.1:c.696A>G ENSP00000508437.1:p.Val232=
ENST00000693150.1:c.618A>G ENSP00000510309.1:p.Val206=
ENST00000307102.10:c.762A>G MANE Select ENSP00000302486.5:p.Val254=
ENST00000307102.9:c.762A>G ENSP00000302486.4:p.Val254=
ENST00000566326.1:c.234A>G ENSP00000456438.1:p.Val78=
NM_002755.3:c.762A>G , LRG_725t1:c.762A>G NP_002746.1:p.Val254=
XM_011521783.1:c.696A>G XP_011520085.1:p.Val232=
XM_011521783.3:c.696A>G XP_011520085.1:p.Val232=
XM_017022411.2:c.684A>G XP_016877900.1:p.Val228=
XM_017022412.1:c.618A>G XP_016877901.1:p.Val206=
XM_017022413.1:c.234A>G XP_016877902.1:p.Val78=
NM_002755.4:c.762A>G MANE Select NP_002746.1:p.Val254=