Canonical Allele Identifier: CA279999
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40747
ClinVar RCV Id: RCV000037596 RCV000623628 RCV001811234
dbSNP Id: rs397516793
MyVariant Identifiers: chr15:g.66729180T>C (hg19) chr15:g.66436842T>C (hg38)
ERepo: CA279999/MONDO:0015280/004
PubMed: PMID:12239713 PMID:12529707 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18042262 PMID:19156172 PMID:20958325 PMID:21654472 PMID:22589294 PMID:22753777 PMID:24101678 PMID:25423878 PMID:27862862
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66436842T>C , CM000677.2:g.66436842T>C GRCh38
NC_000015.9:g.66729180T>C , CM000677.1:g.66729180T>C GRCh37
NC_000015.8:g.64516234T>C NCBI36
NG_008305.1:g.54970T>C , LRG_725:g.54970T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.322T>C ENSP00000508681.1:p.Tyr108His
ENST00000685172.1:c.388T>C ENSP00000509604.1:p.Tyr130His
ENST00000685763.1:c.291+1605T>C ENSP00000509016.1:n.291+1605T>C
ENST00000686347.1:c.388T>C ENSP00000509027.1:p.Tyr130His
ENST00000687191.1:n.824T>C
ENST00000689951.1:c.388T>C ENSP00000509308.1:p.Tyr130His
ENST00000691077.1:c.388T>C ENSP00000509843.1:p.Tyr130His
ENST00000691576.1:c.388T>C ENSP00000510066.1:p.Tyr130His
ENST00000691937.1:c.388T>C ENSP00000508768.1:p.Tyr130His
ENST00000692487.1:c.388T>C ENSP00000509534.1:p.Tyr130His
ENST00000692683.1:c.322T>C ENSP00000508437.1:p.Tyr108His
ENST00000693150.1:c.322T>C ENSP00000510309.1:p.Tyr108His
ENST00000307102.10:c.388T>C MANE Select ENSP00000302486.5:p.Tyr130His
ENST00000307102.9:c.388T>C ENSP00000302486.4:p.Tyr130His
ENST00000425818.2:n.899T>C
NM_002755.3:c.388T>C , LRG_725t1:c.388T>C NP_002746.1:p.Tyr130His
XM_011521783.1:c.322T>C XP_011520085.1:p.Tyr108His
XM_011521783.3:c.322T>C XP_011520085.1:p.Tyr108His
XM_017022411.2:c.388T>C XP_016877900.1:p.Tyr130His
XM_017022412.1:c.322T>C XP_016877901.1:p.Tyr108His
NM_002755.4:c.388T>C MANE Select NP_002746.1:p.Tyr130His
Search 100 bp 5'
Search 100 bp 3'