Canonical Allele Identifier: CA143886
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50938
ClinVar RCV Id: RCV000043643 RCV000521790 RCV001813371 RCV002460041 RCV003944960
dbSNP Id: rs146618055
ExAC: 19:4090659 G / A
gnomAD v2: 19-4090659-G-A
gnomAD v3: 19-4090661-G-A
gnomAD v4: 19-4090661-G-A
MyVariant Identifiers: chr19:g.4090659G>A (hg19) chr19:g.4090661G>A (hg38)
PubMed: PMID:22558107
ERepo: CA143886/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090661G>A , CM000681.2:g.4090661G>A GRCh38
NC_000019.9:g.4090659G>A , CM000681.1:g.4090659G>A GRCh37
NC_000019.8:g.4041659G>A NCBI36
NG_007996.1:g.38468C>T , LRG_750:g.38468C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1579C>T
ENST00000688002.1:n.3291C>T
ENST00000688751.1:n.276C>T
ENST00000689792.1:n.1044C>T
ENST00000262948.10:c.1140C>T MANE Select ENSP00000262948.4:p.Ala380=
ENST00000262948.9:c.1140C>T ENSP00000262948.3:p.Ala380=
ENST00000394867.8:c.849C>T ENSP00000378336.1:p.Ala283=
ENST00000597263.5:n.325C>T
ENST00000599021.1:c.250C>T
ENST00000600584.5:n.2589C>T
ENST00000601786.5:n.1441C>T
NM_030662.3:c.1140C>T , LRG_750t1:c.1140C>T NP_109587.1:p.Ala380=
XM_006722799.2:c.861C>T XP_006722862.1:p.Ala287=
XM_011528133.1:c.570C>T XP_011526435.1:p.Ala190=
NM_030662.4:c.1140C>T MANE Select NP_109587.1:p.Ala380=
Search 100 bp 5'
Search 100 bp 3'