Canonical Allele Identifier: CA296122
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40755
ClinVar RCV Id: RCV000158012
dbSNP Id: rs730880507
MyVariant Identifiers: chr15:g.66777364T>G (hg19) chr15:g.66485026T>G (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485026T>G , CM000677.2:g.66485026T>G GRCh38
NC_000015.9:g.66777364T>G , CM000677.1:g.66777364T>G GRCh37
NC_000015.8:g.64564418T>G NCBI36
NG_008305.1:g.103154T>G , LRG_725:g.103154T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2202T>G ENSP00000508681.1:n.628-2202T>G
ENST00000685172.1:c.730T>G ENSP00000509604.1:p.Ser244Ala
ENST00000685763.1:c.583T>G ENSP00000509016.1:p.Ser195Ala
ENST00000686347.1:c.569-2202T>G ENSP00000509027.1:n.569-2202T>G
ENST00000687191.1:n.1088T>G
ENST00000687481.1:n.145T>G
ENST00000689951.1:c.781T>G ENSP00000509308.1:p.Ser261Ala
ENST00000691077.1:c.726T>G ENSP00000509843.1:p.Ser242Arg
ENST00000691576.1:c.601T>G ENSP00000510066.1:p.Ser201Ala
ENST00000691937.1:c.730T>G ENSP00000508768.1:p.Ser244Ala
ENST00000692487.1:c.726T>G ENSP00000509534.1:p.Ser242Arg
ENST00000692683.1:c.664T>G ENSP00000508437.1:p.Ser222Ala
ENST00000693150.1:c.586T>G ENSP00000510309.1:p.Ser196Ala
ENST00000307102.10:c.730T>G MANE Select ENSP00000302486.5:p.Ser244Ala
ENST00000307102.9:c.730T>G ENSP00000302486.4:p.Ser244Ala
ENST00000566326.1:c.202T>G ENSP00000456438.1:p.Ser68Ala
NM_002755.3:c.730T>G , LRG_725t1:c.730T>G NP_002746.1:p.Ser244Ala
XM_011521783.1:c.664T>G XP_011520085.1:p.Ser222Ala
XM_011521783.3:c.664T>G XP_011520085.1:p.Ser222Ala
XM_017022411.2:c.652T>G XP_016877900.1:p.Ser218Ala
XM_017022412.1:c.586T>G XP_016877901.1:p.Ser196Ala
XM_017022413.1:c.202T>G XP_016877902.1:p.Ser68Ala
NM_002755.4:c.730T>G MANE Select NP_002746.1:p.Ser244Ala
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