Canonical Allele Identifier: CA9091060
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40787
ClinVar RCV Id: RCV001668150 RCV001813311 RCV000521884 RCV002433490
dbSNP Id: rs200918323
ExAC: 19:4117429 G / T
gnomAD v2: 19-4117429-G-T
gnomAD v3: 19-4117431-G-T
gnomAD v4: 19-4117431-G-T
MyVariant Identifiers: chr19:g.4117429G>T (hg19) chr19:g.4117431G>T (hg38)
ERepo: CA9091060/MONDO:0021060/004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117431G>T , CM000681.2:g.4117431G>T GRCh38
NC_000019.9:g.4117429G>T , CM000681.1:g.4117429G>T GRCh37
NC_000019.8:g.4068429G>T NCBI36
NG_007996.1:g.11698C>A , LRG_750:g.11698C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.730C>A
ENST00000687128.1:n.730C>A
ENST00000262948.10:c.291C>A MANE Select ENSP00000262948.4:p.Ile97=
ENST00000262948.9:c.291C>A ENSP00000262948.3:p.Ile97=
ENST00000394867.8:c.-1C>A ENSP00000378336.1:n.-1C>A
ENST00000599345.1:n.488C>A
NM_030662.3:c.291C>A , LRG_750t1:c.291C>A NP_109587.1:p.Ile97=
XM_006722799.2:c.291C>A XP_006722862.1:p.Ile97=
XM_017026989.1:c.291C>A XP_016882478.1:p.Ile97=
XM_017026990.1:c.291C>A XP_016882479.1:p.Ile97=
XM_017026991.1:c.291C>A XP_016882480.1:p.Ile97=
NM_030662.4:c.291C>A MANE Select NP_109587.1:p.Ile97=
Search 100 bp 5'
Search 100 bp 3'