Canonical Allele Identifier: CA9090685
Gene: MAP2K2 HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition RASopathy
VCEP RASopathy VCEP
MyVariant.info:
GRCh38 chr19:g.4090614G>A
GRCh37 chr19:g.4090612G>A
Revel Score:
ENST00000262948 (MANE Select) 0.524
ENST00000394867 0.524
gnomAD v2:
19:4090612 G / A
gnomAD v3:
19:4090614 G / A
gnomAD v4:
chr19-4090614-G-A
Joint Max Group AF 0.00009704 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.00009749 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090614G>A , CM000681.2:g.4090614G>A GRCh38
NC_000019.9:g.4090612G>A , CM000681.1:g.4090612G>A GRCh37
NC_000019.8:g.4041612G>A NCBI36
NG_007996.1:g.38515C>T , LRG_750:g.38515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1626C>T
ENST00000688002.1:n.3338C>T
ENST00000688751.1:n.323C>T
ENST00000689792.1:n.1091C>T
ENST00000262948.10:c.1187C>T MANE Select ENSP00000262948.4:p.Thr396Met
ENST00000262948.9:c.1187C>T ENSP00000262948.3:p.Thr396Met
ENST00000394867.8:c.896C>T ENSP00000378336.1:p.Thr299Met
ENST00000597263.5:n.372C>T
ENST00000599021.1:c.297C>T
ENST00000600584.5:n.2636C>T
ENST00000601786.5:n.1488C>T
NM_030662.3:c.1187C>T , LRG_750t1:c.1187C>T NP_109587.1:p.Thr396Met
XM_006722799.2:c.908C>T XP_006722862.1:p.Thr303Met
XM_011528133.1:c.617C>T XP_011526435.1:p.Thr206Met
NM_030662.4:c.1187C>T MANE Select NP_109587.1:p.Thr396Met
Search 100 bp 5'
Search 100 bp 3'