Canonical Allele Identifier: CA137969
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40825
ClinVar RCV Id: RCV000039494 RCV000520563 RCV001705637 RCV002426540 RCV003944870
dbSNP Id: rs145934142
ExAC: 19:4099295 G / A
gnomAD v2: 19-4099295-G-A
gnomAD v3: 19-4099297-G-A
gnomAD v4: 19-4099297-G-A
MyVariant Identifiers: chr19:g.4099295G>A (hg19) chr19:g.4099297G>A (hg38)
ERepo: CA137969/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099297G>A , CM000681.2:g.4099297G>A GRCh38
NC_000019.9:g.4099295G>A , CM000681.1:g.4099295G>A GRCh37
NC_000019.8:g.4050295G>A NCBI36
NG_007996.1:g.29832C>T , LRG_750:g.29832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1262C>T
ENST00000687128.1:n.1262C>T
ENST00000688002.1:n.1117C>T
ENST00000689792.1:n.727C>T
ENST00000262948.10:c.823C>T MANE Select ENSP00000262948.4:p.Leu275=
ENST00000262948.9:c.823C>T ENSP00000262948.3:p.Leu275=
ENST00000394867.8:c.532C>T ENSP00000378336.1:p.Leu178=
ENST00000593364.5:n.770C>T
ENST00000595715.1:n.638C>T
ENST00000597263.5:n.169+1722C>T
ENST00000599021.1:c.29+1722C>T
ENST00000600584.5:n.1383C>T
ENST00000601786.5:n.1124C>T
NM_030662.3:c.823C>T , LRG_750t1:c.823C>T NP_109587.1:p.Leu275=
XM_006722799.2:c.705+1722C>T XP_006722862.1:n.705+1722C>T
XM_011528133.1:c.253C>T XP_011526435.1:p.Leu85=
XM_017026989.1:c.823C>T XP_016882478.1:p.Leu275=
XM_017026990.1:c.705+1722C>T XP_016882479.1:n.705+1722C>T
NM_030662.4:c.823C>T MANE Select NP_109587.1:p.Leu275=
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