Canonical Allele Identifier: CA504984684

Gene: MAP2K2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095435C>T , CM000681.2:g.4095435C>T	GRCh38
NC_000019.9:g.4095433C>T , CM000681.1:g.4095433C>T	GRCh37
NC_000019.8:g.4046433C>T	NCBI36
NG_007996.1:g.33694G>A , LRG_750:g.33694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1438G>A
ENST00000688002.1:n.3150G>A
ENST00000688751.1:n.135G>A
ENST00000689792.1:n.903G>A
ENST00000262948.10:c.999G>A MANE Select	ENSP00000262948.4:p.Leu333=
ENST00000262948.9:c.999G>A	ENSP00000262948.3:p.Leu333=
ENST00000394867.8:c.708G>A	ENSP00000378336.1:p.Leu236=
ENST00000595715.1:n.814G>A
ENST00000597263.5:n.184G>A
ENST00000599021.1:c.109G>A
ENST00000600584.5:n.1559G>A
ENST00000601786.5:n.1300G>A
NM_030662.3:c.999G>A , LRG_750t1:c.999G>A	NP_109587.1:p.Leu333=
XM_006722799.2:c.720G>A	XP_006722862.1:p.Leu240=
XM_011528133.1:c.429G>A	XP_011526435.1:p.Leu143=
XM_017026989.1:c.999G>A	XP_016882478.1:p.Leu333=
XM_017026990.1:c.720G>A	XP_016882479.1:p.Leu240=
NM_030662.4:c.999G>A MANE Select	NP_109587.1:p.Leu333=