Canonical Allele Identifier: CA279958
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8272
dbSNP Id: rs121434497
CIViC: CA279958

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117552A>C , CM000681.2:g.4117552A>C GRCh38
NC_000019.9:g.4117550A>C , CM000681.1:g.4117550A>C GRCh37
NC_000019.8:g.4068550A>C NCBI36
NG_007996.1:g.11577T>G , LRG_750:g.11577T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.609T>G
ENST00000687128.1:n.609T>G
ENST00000262948.10:c.170T>G MANE Select ENSP00000262948.4:p.Phe57Cys
ENST00000262948.9:c.170T>G ENSP00000262948.3:p.Phe57Cys
ENST00000394867.8:c.-122T>G ENSP00000378336.1:n.-122T>G
ENST00000599345.1:n.367T>G
NM_030662.3:c.170T>G , LRG_750t1:c.170T>G NP_109587.1:p.Phe57Cys
XM_006722799.2:c.170T>G XP_006722862.1:p.Phe57Cys
XM_017026989.1:c.170T>G XP_016882478.1:p.Phe57Cys
XM_017026990.1:c.170T>G XP_016882479.1:p.Phe57Cys
XM_017026991.1:c.170T>G XP_016882480.1:p.Phe57Cys
NM_030662.4:c.170T>G MANE Select NP_109587.1:p.Phe57Cys