Canonical Allele Identifier: CA234222
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167260
ClinVar RCV Id: RCV000153454 RCV000824938 RCV001250390
dbSNP Id: rs727503996
MyVariant Identifiers: chr15:g.66774132A>G (hg19) chr15:g.66481794A>G (hg38)
ERepo: CA234222/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481794A>G , CM000677.2:g.66481794A>G GRCh38
NC_000015.9:g.66774132A>G , CM000677.1:g.66774132A>G GRCh37
NC_000015.8:g.64561186A>G NCBI36
NG_008305.1:g.99922A>G , LRG_725:g.99922A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.542A>G ENSP00000508681.1:p.Glu181Gly
ENST00000685172.1:c.608A>G ENSP00000509604.1:p.Glu203Gly
ENST00000685763.1:c.461A>G ENSP00000509016.1:p.Glu154Gly
ENST00000686347.1:c.569-5434A>G ENSP00000509027.1:n.569-5434A>G
ENST00000687191.1:n.966A>G
ENST00000689951.1:c.659A>G ENSP00000509308.1:p.Glu220Gly
ENST00000691077.1:c.608A>G ENSP00000509843.1:p.Glu203Gly
ENST00000691576.1:c.569-3200A>G ENSP00000510066.1:n.569-3200A>G
ENST00000691937.1:c.608A>G ENSP00000508768.1:p.Glu203Gly
ENST00000692487.1:c.608A>G ENSP00000509534.1:p.Glu203Gly
ENST00000692683.1:c.542A>G ENSP00000508437.1:p.Glu181Gly
ENST00000693150.1:c.464A>G ENSP00000510309.1:p.Glu155Gly
ENST00000307102.10:c.608A>G MANE Select ENSP00000302486.5:p.Glu203Gly
ENST00000307102.9:c.608A>G ENSP00000302486.4:p.Glu203Gly
ENST00000566326.1:c.80A>G ENSP00000456438.1:p.Glu27Gly
NM_002755.3:c.608A>G , LRG_725t1:c.608A>G NP_002746.1:p.Glu203Gly
XM_011521783.1:c.542A>G XP_011520085.1:p.Glu181Gly
XM_011521783.3:c.542A>G XP_011520085.1:p.Glu181Gly
XM_017022411.2:c.530A>G XP_016877900.1:p.Glu177Gly
XM_017022412.1:c.464A>G XP_016877901.1:p.Glu155Gly
XM_017022413.1:c.80A>G XP_016877902.1:p.Glu27Gly
NM_002755.4:c.608A>G MANE Select NP_002746.1:p.Glu203Gly
Search 100 bp 5'
Search 100 bp 3'