Canonical Allele Identifier: CA137903
Gene: MAP2K2 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Benign
Condition RASopathy
VCEP RASopathy VCEP
MyVariant.info:
GRCh38 chr19:g.4090590G>A
GRCh37 chr19:g.4090588G>A
gnomAD v2:
19:4090588 G / A
gnomAD v3:
19:4090590 G / A
gnomAD v4:
chr19-4090590-G-A
Joint Max Group AF 0.00013134 (NFE)
Genomes Max Group AF 0.00014675 (NFE)
Exomes Max Group AF 0.00012572 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090590G>A , CM000681.2:g.4090590G>A GRCh38
NC_000019.9:g.4090588G>A , CM000681.1:g.4090588G>A GRCh37
NC_000019.8:g.4041588G>A NCBI36
NG_007996.1:g.38539C>T , LRG_750:g.38539C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1650C>T
ENST00000688002.1:n.3362C>T
ENST00000688751.1:n.347C>T
ENST00000689792.1:n.1115C>T
ENST00000262948.10:c.*8C>T MANE Select ENSP00000262948.4:n.*8C>T
ENST00000262948.9:c.*8C>T ENSP00000262948.3:n.*8C>T
ENST00000394867.8:c.*8C>T ENSP00000378336.1:n.*8C>T
ENST00000597263.5:n.396C>T
ENST00000600584.5:n.2660C>T
ENST00000601786.5:n.1512C>T
NM_030662.3:c.*8C>T , LRG_750t1:c.*8C>T NP_109587.1:n.*8C>T
XM_006722799.2:c.*8C>T XP_006722862.1:n.*8C>T
XM_011528133.1:c.*8C>T XP_011526435.1:n.*8C>T
NM_030662.4:c.*8C>T MANE Select NP_109587.1:n.*8C>T
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