Canonical Allele Identifier: CA403391439

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1736188
• ClinVar RCV Id: RCV003655362 ; RCV002373177
• dbSNP Id: rs397517413
• gnomAD v3: 19-4110568-C-A
• gnomAD v4: 19-4110568-C-A
• MyVariant Identifiers: chr19:g.4110566C>A (hg19) ; chr19:g.4110568C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110568C>A , CM000681.2:g.4110568C>A	GRCh38
NC_000019.9:g.4110566C>A , CM000681.1:g.4110566C>A	GRCh37
NC_000019.8:g.4061566C>A	NCBI36
NG_007996.1:g.18561G>T , LRG_750:g.18561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.830G>T
ENST00000687128.1:n.830G>T
ENST00000262948.10:c.391G>T MANE Select	ENSP00000262948.4:p.Val131Leu
ENST00000262948.9:c.391G>T	ENSP00000262948.3:p.Val131Leu
ENST00000394867.8:c.100G>T	ENSP00000378336.1:p.Val34Leu
ENST00000599345.1:n.588G>T
NM_030662.3:c.391G>T , LRG_750t1:c.391G>T	NP_109587.1:p.Val131Leu
XM_006722799.2:c.391G>T	XP_006722862.1:p.Val131Leu
XM_017026989.1:c.391G>T	XP_016882478.1:p.Val131Leu
XM_017026990.1:c.391G>T	XP_016882479.1:p.Val131Leu
XM_017026991.1:c.391G>T	XP_016882480.1:p.Val131Leu
NM_030662.4:c.391G>T MANE Select	NP_109587.1:p.Val131Leu