Canonical Allele Identifier: CA403382490

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094478-T-A
• MyVariant Identifiers: chr19:g.4094476T>A (hg19) ; chr19:g.4094478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094478T>A , CM000681.2:g.4094478T>A	GRCh38
NC_000019.9:g.4094476T>A , CM000681.1:g.4094476T>A	GRCh37
NC_000019.8:g.4045476T>A	NCBI36
NG_007996.1:g.34651A>T , LRG_750:g.34651A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1506A>T
ENST00000688002.1:n.3218A>T
ENST00000688751.1:n.203A>T
ENST00000689792.1:n.971A>T
ENST00000262948.10:c.1067A>T MANE Select	ENSP00000262948.4:p.Glu356Val
ENST00000262948.9:c.1067A>T	ENSP00000262948.3:p.Glu356Val
ENST00000394867.8:c.776A>T	ENSP00000378336.1:p.Glu259Val
ENST00000597263.5:n.252A>T
ENST00000599021.1:c.177A>T
ENST00000600584.5:n.2516A>T
ENST00000601786.5:n.1368A>T
NM_030662.3:c.1067A>T , LRG_750t1:c.1067A>T	NP_109587.1:p.Glu356Val
XM_006722799.2:c.788A>T	XP_006722862.1:p.Glu263Val
XM_011528133.1:c.497A>T	XP_011526435.1:p.Glu166Val
NM_030662.4:c.1067A>T MANE Select	NP_109587.1:p.Glu356Val