Canonical Allele Identifier: CA9090706
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 261928
ClinVar RCV Id: RCV000254049 RCV000470994 RCV002418088
dbSNP Id: rs140896887
ExAC: 19:4094469 C / T
gnomAD v2: 19-4094469-C-T
gnomAD v3: 19-4094471-C-T
gnomAD v4: 19-4094471-C-T
MyVariant Identifiers: chr19:g.4094469C>T (hg19) chr19:g.4094471C>T (hg38)
ERepo: CA9090706/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094471C>T , CM000681.2:g.4094471C>T GRCh38
NC_000019.9:g.4094469C>T , CM000681.1:g.4094469C>T GRCh37
NC_000019.8:g.4045469C>T NCBI36
NG_007996.1:g.34658G>A , LRG_750:g.34658G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1513G>A
ENST00000688002.1:n.3225G>A
ENST00000688751.1:n.210G>A
ENST00000689792.1:n.978G>A
ENST00000262948.10:c.1074G>A MANE Select ENSP00000262948.4:p.Ala358=
ENST00000262948.9:c.1074G>A ENSP00000262948.3:p.Ala358=
ENST00000394867.8:c.783G>A ENSP00000378336.1:p.Ala261=
ENST00000597263.5:n.259G>A
ENST00000599021.1:c.184G>A
ENST00000600584.5:n.2523G>A
ENST00000601786.5:n.1375G>A
NM_030662.3:c.1074G>A , LRG_750t1:c.1074G>A NP_109587.1:p.Ala358=
XM_006722799.2:c.795G>A XP_006722862.1:p.Ala265=
XM_011528133.1:c.504G>A XP_011526435.1:p.Ala168=
NM_030662.4:c.1074G>A MANE Select NP_109587.1:p.Ala358=
Search 100 bp 5'
Search 100 bp 3'