Canonical Allele Identifier: CA280074
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40769
ClinVar RCV Id: RCV000158039 RCV000200295 RCV001205317 RCV001781338
dbSNP Id: rs730880517
MyVariant Identifiers: chr19:g.4117539T>C (hg19) chr19:g.4117541T>C (hg38)
PubMed: PMID:25326637
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117541T>C , CM000681.2:g.4117541T>C GRCh38
NC_000019.9:g.4117539T>C , CM000681.1:g.4117539T>C GRCh37
NC_000019.8:g.4068539T>C NCBI36
NG_007996.1:g.11588A>G , LRG_750:g.11588A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.620A>G
ENST00000687128.1:n.620A>G
ENST00000262948.10:c.181A>G MANE Select ENSP00000262948.4:p.Lys61Glu
ENST00000262948.9:c.181A>G ENSP00000262948.3:p.Lys61Glu
ENST00000394867.8:c.-111A>G ENSP00000378336.1:n.-111A>G
ENST00000599345.1:n.378A>G
NM_030662.3:c.181A>G , LRG_750t1:c.181A>G NP_109587.1:p.Lys61Glu
XM_006722799.2:c.181A>G XP_006722862.1:p.Lys61Glu
XM_017026989.1:c.181A>G XP_016882478.1:p.Lys61Glu
XM_017026990.1:c.181A>G XP_016882479.1:p.Lys61Glu
XM_017026991.1:c.181A>G XP_016882480.1:p.Lys61Glu
NM_030662.4:c.181A>G MANE Select NP_109587.1:p.Lys61Glu
Search 100 bp 5'
Search 100 bp 3'