Canonical Allele Identifier: CA180870
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40832
ClinVar RCV Id: RCV000154492 RCV000227476 RCV000586661 RCV000852749 RCV001813317
dbSNP Id: rs200371894
ExAC: 19:4099225 G / A
gnomAD v2: 19-4099225-G-A
gnomAD v3: 19-4099227-G-A
gnomAD v4: 19-4099227-G-A
COSMIC: COSM1238032 COSM3225664
MyVariant Identifiers: chr19:g.4099225G>A (hg19) chr19:g.4099227G>A (hg38)
ERepo: CA180870/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099227G>A , CM000681.2:g.4099227G>A GRCh38
NC_000019.9:g.4099225G>A , CM000681.1:g.4099225G>A GRCh37
NC_000019.8:g.4050225G>A NCBI36
NG_007996.1:g.29902C>T , LRG_750:g.29902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1332C>T
ENST00000687128.1:n.1332C>T
ENST00000688002.1:n.1187C>T
ENST00000689792.1:n.797C>T
ENST00000262948.10:c.893C>T MANE Select ENSP00000262948.4:p.Pro298Leu
ENST00000262948.9:c.893C>T ENSP00000262948.3:p.Pro298Leu
ENST00000394867.8:c.602C>T ENSP00000378336.1:p.Pro201Leu
ENST00000593364.5:n.840C>T
ENST00000595715.1:n.708C>T
ENST00000597263.5:n.169+1792C>T
ENST00000599021.1:c.29+1792C>T
ENST00000600584.5:n.1453C>T
ENST00000601786.5:n.1194C>T
NM_030662.3:c.893C>T , LRG_750t1:c.893C>T NP_109587.1:p.Pro298Leu
XM_006722799.2:c.705+1792C>T XP_006722862.1:n.705+1792C>T
XM_011528133.1:c.323C>T XP_011526435.1:p.Pro108Leu
XM_017026989.1:c.893C>T XP_016882478.1:p.Pro298Leu
XM_017026990.1:c.705+1792C>T XP_016882479.1:n.705+1792C>T
NM_030662.4:c.893C>T MANE Select NP_109587.1:p.Pro298Leu
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