Canonical Allele Identifier: CA2955275603
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110568dup , CM000681.2:g.4110568dup GRCh38
NC_000019.9:g.4110566dup , CM000681.1:g.4110566dup GRCh37
NC_000019.8:g.4061566dup NCBI36
NG_007996.1:g.18561dup , LRG_750:g.18561dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.830dup
ENST00000687128.1:n.830dup
ENST00000262948.10:c.391dup MANE Select ENSP00000262948.4:p.Val131GlyfsTer10
ENST00000262948.9:c.391dup ENSP00000262948.3:p.Val131GlyfsTer10
ENST00000394867.8:c.100dup ENSP00000378336.1:p.Val34GlyfsTer10
ENST00000599345.1:n.588dup
NM_030662.3:c.391dup , LRG_750t1:c.391dup NP_109587.1:p.Val131GlyfsTer10
XM_006722799.2:c.391dup XP_006722862.1:p.Val131GlyfsTer10
XM_017026989.1:c.391dup XP_016882478.1:p.Val131GlyfsTer10
XM_017026990.1:c.391dup XP_016882479.1:p.Val131GlyfsTer10
XM_017026991.1:c.391dup XP_016882480.1:p.Val131GlyfsTer10
NM_030662.4:c.391dup MANE Select NP_109587.1:p.Val131GlyfsTer10