Canonical Allele Identifier: CA180890
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 177868
dbSNP Id: rs727504370

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110558T>C , CM000681.2:g.4110558T>C GRCh38
NC_000019.9:g.4110556T>C , CM000681.1:g.4110556T>C GRCh37
NC_000019.8:g.4061556T>C NCBI36
NG_007996.1:g.18571A>G , LRG_750:g.18571A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.840A>G
ENST00000687128.1:n.840A>G
ENST00000262948.10:c.401A>G MANE Select ENSP00000262948.4:p.Tyr134Cys
ENST00000262948.9:c.401A>G ENSP00000262948.3:p.Tyr134Cys
ENST00000394867.8:c.110A>G ENSP00000378336.1:p.Tyr37Cys
ENST00000599345.1:n.598A>G
NM_030662.3:c.401A>G , LRG_750t1:c.401A>G NP_109587.1:p.Tyr134Cys
XM_006722799.2:c.401A>G XP_006722862.1:p.Tyr134Cys
XM_017026989.1:c.401A>G XP_016882478.1:p.Tyr134Cys
XM_017026990.1:c.401A>G XP_016882479.1:p.Tyr134Cys
XM_017026991.1:c.401A>G XP_016882480.1:p.Tyr134Cys
NM_030662.4:c.401A>G MANE Select NP_109587.1:p.Tyr134Cys