Canonical Allele Identifier: CA279960
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8273
ClinVar RCV Id: RCV000008762 RCV000434377 RCV000423711 RCV000441583 RCV000439181 RCV000521375
dbSNP Id: rs121434498
COSMIC: COSM3534171 COSM3534172
MyVariant Identifiers: chr19:g.4117551A>C (hg19) chr19:g.4117553A>C (hg38)
ERepo: CA279960/MONDO:0015280/004
PubMed: PMID:18042262 PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117553A>C , CM000681.2:g.4117553A>C GRCh38
NC_000019.9:g.4117551A>C , CM000681.1:g.4117551A>C GRCh37
NC_000019.8:g.4068551A>C NCBI36
NG_007996.1:g.11576T>G , LRG_750:g.11576T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.608T>G
ENST00000687128.1:n.608T>G
ENST00000262948.10:c.169T>G MANE Select ENSP00000262948.4:p.Phe57Val
ENST00000262948.9:c.169T>G ENSP00000262948.3:p.Phe57Val
ENST00000394867.8:c.-123T>G ENSP00000378336.1:n.-123T>G
ENST00000599345.1:n.366T>G
NM_030662.3:c.169T>G , LRG_750t1:c.169T>G NP_109587.1:p.Phe57Val
XM_006722799.2:c.169T>G XP_006722862.1:p.Phe57Val
XM_017026989.1:c.169T>G XP_016882478.1:p.Phe57Val
XM_017026990.1:c.169T>G XP_016882479.1:p.Phe57Val
XM_017026991.1:c.169T>G XP_016882480.1:p.Phe57Val
NM_030662.4:c.169T>G MANE Select NP_109587.1:p.Phe57Val
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