Canonical Allele Identifier: CA134613
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40754
ClinVar RCV Id: RCV000037599 RCV000205637 RCV001813307 RCV001705632 RCV002371811
dbSNP Id: rs17586159
ExAC: 15:66777345 G / A
gnomAD v2: 15-66777345-G-A
gnomAD v3: 15-66485007-G-A
gnomAD v4: 15-66485007-G-A
MyVariant Identifiers: chr15:g.66777345G>A (hg19) chr15:g.66485007G>A (hg38)
ERepo: CA134613/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485007G>A , CM000677.2:g.66485007G>A GRCh38
NC_000015.9:g.66777345G>A , CM000677.1:g.66777345G>A GRCh37
NC_000015.8:g.64564399G>A NCBI36
NG_008305.1:g.103135G>A , LRG_725:g.103135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2221G>A ENSP00000508681.1:n.628-2221G>A
ENST00000685172.1:c.711G>A ENSP00000509604.1:p.Gly237=
ENST00000685763.1:c.564G>A ENSP00000509016.1:p.Gly188=
ENST00000686347.1:c.569-2221G>A ENSP00000509027.1:n.569-2221G>A
ENST00000687191.1:n.1069G>A
ENST00000687481.1:n.126G>A
ENST00000689951.1:c.762G>A ENSP00000509308.1:p.Gly254=
ENST00000691077.1:c.707G>A ENSP00000509843.1:p.Gly236Glu
ENST00000691576.1:c.582G>A ENSP00000510066.1:p.Gly194=
ENST00000691937.1:c.711G>A ENSP00000508768.1:p.Gly237=
ENST00000692487.1:c.707G>A ENSP00000509534.1:p.Gly236Glu
ENST00000692683.1:c.645G>A ENSP00000508437.1:p.Gly215=
ENST00000693150.1:c.567G>A ENSP00000510309.1:p.Gly189=
ENST00000307102.10:c.711G>A MANE Select ENSP00000302486.5:p.Gly237=
ENST00000307102.9:c.711G>A ENSP00000302486.4:p.Gly237=
ENST00000566326.1:c.183G>A ENSP00000456438.1:p.Gly61=
NM_002755.3:c.711G>A , LRG_725t1:c.711G>A NP_002746.1:p.Gly237=
XM_011521783.1:c.645G>A XP_011520085.1:p.Gly215=
XM_011521783.3:c.645G>A XP_011520085.1:p.Gly215=
XM_017022411.2:c.633G>A XP_016877900.1:p.Gly211=
XM_017022412.1:c.567G>A XP_016877901.1:p.Gly189=
XM_017022413.1:c.183G>A XP_016877902.1:p.Gly61=
NM_002755.4:c.711G>A MANE Select NP_002746.1:p.Gly237=
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