Canonical Allele Identifier: CA137938
Gene: MAP2K2 HGNC NCBI
ClinGen Classification:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110539G>A , CM000681.2:g.4110539G>A GRCh38
NC_000019.9:g.4110537G>A , CM000681.1:g.4110537G>A GRCh37
NC_000019.8:g.4061537G>A NCBI36
NG_007996.1:g.18590C>T , LRG_750:g.18590C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.859C>T
ENST00000687128.1:n.859C>T
ENST00000262948.10:c.420C>T MANE Select ENSP00000262948.4:p.Asp140=
ENST00000262948.9:c.420C>T ENSP00000262948.3:p.Asp140=
ENST00000394867.8:c.129C>T ENSP00000378336.1:p.Asp43=
ENST00000599345.1:n.617C>T
NM_030662.3:c.420C>T , LRG_750t1:c.420C>T NP_109587.1:p.Asp140=
XM_006722799.2:c.420C>T XP_006722862.1:p.Asp140=
XM_017026989.1:c.420C>T XP_016882478.1:p.Asp140=
XM_017026990.1:c.420C>T XP_016882479.1:p.Asp140=
XM_017026991.1:c.420C>T XP_016882480.1:p.Asp140=
NM_030662.4:c.420C>T MANE Select NP_109587.1:p.Asp140=