Canonical Allele Identifier: CA392937305
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1205184981
gnomAD v4: 15-66485123-G-A
MyVariant Identifiers: chr15:g.66777461G>A (hg19) chr15:g.66485123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485123G>A , CM000677.2:g.66485123G>A GRCh38
NC_000015.9:g.66777461G>A , CM000677.1:g.66777461G>A GRCh37
NC_000015.8:g.64564515G>A NCBI36
NG_008305.1:g.103251G>A , LRG_725:g.103251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2105G>A ENSP00000508681.1:n.628-2105G>A
ENST00000685172.1:c.827G>A ENSP00000509604.1:p.Gly276Glu
ENST00000685763.1:c.680G>A ENSP00000509016.1:p.Gly227Glu
ENST00000686347.1:c.569-2105G>A ENSP00000509027.1:n.569-2105G>A
ENST00000687191.1:n.1185G>A
ENST00000687481.1:n.242G>A
ENST00000689951.1:c.878G>A ENSP00000509308.1:p.Gly293Glu
ENST00000691077.1:c.*64G>A ENSP00000509843.1:n.*64G>A
ENST00000691576.1:c.698G>A ENSP00000510066.1:p.Gly233Glu
ENST00000691937.1:c.827G>A ENSP00000508768.1:p.Gly276Glu
ENST00000692487.1:c.*64G>A ENSP00000509534.1:n.*64G>A
ENST00000692683.1:c.761G>A ENSP00000508437.1:p.Gly254Glu
ENST00000693150.1:c.683G>A ENSP00000510309.1:p.Gly228Glu
ENST00000307102.10:c.827G>A MANE Select ENSP00000302486.5:p.Gly276Glu
ENST00000307102.9:c.827G>A ENSP00000302486.4:p.Gly276Glu
ENST00000566326.1:c.299G>A ENSP00000456438.1:p.Gly100Glu
NM_002755.3:c.827G>A , LRG_725t1:c.827G>A NP_002746.1:p.Gly276Glu
XM_011521783.1:c.761G>A XP_011520085.1:p.Gly254Glu
XM_011521783.3:c.761G>A XP_011520085.1:p.Gly254Glu
XM_017022411.2:c.749G>A XP_016877900.1:p.Gly250Glu
XM_017022412.1:c.683G>A XP_016877901.1:p.Gly228Glu
XM_017022413.1:c.299G>A XP_016877902.1:p.Gly100Glu
NM_002755.4:c.827G>A MANE Select NP_002746.1:p.Gly276Glu
Search 100 bp 5'
Search 100 bp 3'