Canonical Allele Identifier: CA296133
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40818
ClinVar RCV Id: RCV000158025 RCV000788004 RCV000824948 RCV000466246 RCV001849290
dbSNP Id: rs730880511
MyVariant Identifiers: chr19:g.4101030C>A (hg19) chr19:g.4101032C>A (hg38)
ERepo: CA296133/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4101032C>A , CM000681.2:g.4101032C>A GRCh38
NC_000019.9:g.4101030C>A , CM000681.1:g.4101030C>A GRCh37
NC_000019.8:g.4052030C>A NCBI36
NG_007996.1:g.28097G>T , LRG_750:g.28097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1131G>T
ENST00000687128.1:n.1131G>T
ENST00000689792.1:n.632G>T
ENST00000262948.10:c.692G>T MANE Select ENSP00000262948.4:p.Arg231Leu
ENST00000262948.9:c.692G>T ENSP00000262948.3:p.Arg231Leu
ENST00000394867.8:c.401G>T ENSP00000378336.1:p.Arg134Leu
ENST00000593364.5:n.639G>T
ENST00000597008.5:n.293G>T
ENST00000597263.5:n.156G>T
ENST00000599021.1:c.16G>T
ENST00000601786.5:n.993G>T
ENST00000602167.5:n.412G>T
NM_030662.3:c.692G>T , LRG_750t1:c.692G>T NP_109587.1:p.Arg231Leu
XM_006722799.2:c.692G>T XP_006722862.1:p.Arg231Leu
XM_011528133.1:c.122G>T XP_011526435.1:p.Arg41Leu
XM_017026989.1:c.692G>T XP_016882478.1:p.Arg231Leu
XM_017026990.1:c.692G>T XP_016882479.1:p.Arg231Leu
XM_017026991.1:c.692G>T XP_016882480.1:p.Arg231Leu
NM_030662.4:c.692G>T MANE Select NP_109587.1:p.Arg231Leu
Search 100 bp 5'
Search 100 bp 3'