Canonical Allele Identifier: CA16043196

Gene: MAP2K2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095398C>T , CM000681.2:g.4095398C>T	GRCh38
NC_000019.9:g.4095396C>T , CM000681.1:g.4095396C>T	GRCh37
NC_000019.8:g.4046396C>T	NCBI36
NG_007996.1:g.33731G>A , LRG_750:g.33731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1475G>A
ENST00000688002.1:n.3187G>A
ENST00000688751.1:n.172G>A
ENST00000689792.1:n.940G>A
ENST00000262948.10:c.1036G>A MANE Select	ENSP00000262948.4:p.Val346Ile
ENST00000262948.9:c.1036G>A	ENSP00000262948.3:p.Val346Ile
ENST00000394867.8:c.745G>A	ENSP00000378336.1:p.Val249Ile
ENST00000595715.1:n.851G>A
ENST00000597263.5:n.221G>A
ENST00000599021.1:c.146G>A
ENST00000600584.5:n.1596G>A
ENST00000601786.5:n.1337G>A
NM_030662.3:c.1036G>A , LRG_750t1:c.1036G>A	NP_109587.1:p.Val346Ile
XM_006722799.2:c.757G>A	XP_006722862.1:p.Val253Ile
XM_011528133.1:c.466G>A	XP_011526435.1:p.Val156Ile
XM_017026989.1:c.1036G>A	XP_016882478.1:p.Val346Ile
XM_017026990.1:c.757G>A	XP_016882479.1:p.Val253Ile
NM_030662.4:c.1036G>A MANE Select	NP_109587.1:p.Val346Ile