Canonical Allele Identifier: CA392937210
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1250009806
MyVariant Identifiers: chr15:g.66777430C>G (hg19) chr15:g.66485092C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485092C>G , CM000677.2:g.66485092C>G GRCh38
NC_000015.9:g.66777430C>G , CM000677.1:g.66777430C>G GRCh37
NC_000015.8:g.64564484C>G NCBI36
NG_008305.1:g.103220C>G , LRG_725:g.103220C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2136C>G ENSP00000508681.1:n.628-2136C>G
ENST00000685172.1:c.796C>G ENSP00000509604.1:p.Pro266Ala
ENST00000685763.1:c.649C>G ENSP00000509016.1:p.Pro217Ala
ENST00000686347.1:c.569-2136C>G ENSP00000509027.1:n.569-2136C>G
ENST00000687191.1:n.1154C>G
ENST00000687481.1:n.211C>G
ENST00000689951.1:c.847C>G ENSP00000509308.1:p.Pro283Ala
ENST00000691077.1:c.*33C>G ENSP00000509843.1:n.*33C>G
ENST00000691576.1:c.667C>G ENSP00000510066.1:p.Pro223Ala
ENST00000691937.1:c.796C>G ENSP00000508768.1:p.Pro266Ala
ENST00000692487.1:c.*33C>G ENSP00000509534.1:n.*33C>G
ENST00000692683.1:c.730C>G ENSP00000508437.1:p.Pro244Ala
ENST00000693150.1:c.652C>G ENSP00000510309.1:p.Pro218Ala
ENST00000307102.10:c.796C>G MANE Select ENSP00000302486.5:p.Pro266Ala
ENST00000307102.9:c.796C>G ENSP00000302486.4:p.Pro266Ala
ENST00000566326.1:c.268C>G ENSP00000456438.1:p.Pro90Ala
NM_002755.3:c.796C>G , LRG_725t1:c.796C>G NP_002746.1:p.Pro266Ala
XM_011521783.1:c.730C>G XP_011520085.1:p.Pro244Ala
XM_011521783.3:c.730C>G XP_011520085.1:p.Pro244Ala
XM_017022411.2:c.718C>G XP_016877900.1:p.Pro240Ala
XM_017022412.1:c.652C>G XP_016877901.1:p.Pro218Ala
XM_017022413.1:c.268C>G XP_016877902.1:p.Pro90Ala
NM_002755.4:c.796C>G MANE Select NP_002746.1:p.Pro266Ala
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