Canonical Allele Identifier: CA403386498
Gene: MAP2K2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099321T>A , CM000681.2:g.4099321T>A GRCh38
NC_000019.9:g.4099319T>A , CM000681.1:g.4099319T>A GRCh37
NC_000019.8:g.4050319T>A NCBI36
NG_007996.1:g.29808A>T , LRG_750:g.29808A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1238A>T
ENST00000687128.1:n.1238A>T
ENST00000688002.1:n.1093A>T
ENST00000689792.1:n.703A>T
ENST00000262948.10:c.799A>T MANE Select ENSP00000262948.4:p.Ile267Phe
ENST00000262948.9:c.799A>T ENSP00000262948.3:p.Ile267Phe
ENST00000394867.8:c.508A>T ENSP00000378336.1:p.Ile170Phe
ENST00000593364.5:n.746A>T
ENST00000595715.1:n.614A>T
ENST00000597263.5:n.169+1698A>T
ENST00000599021.1:c.29+1698A>T
ENST00000600584.5:n.1359A>T
ENST00000601786.5:n.1100A>T
NM_030662.3:c.799A>T , LRG_750t1:c.799A>T NP_109587.1:p.Ile267Phe
XM_006722799.2:c.705+1698A>T XP_006722862.1:n.705+1698A>T
XM_011528133.1:c.229A>T XP_011526435.1:p.Ile77Phe
XM_017026989.1:c.799A>T XP_016882478.1:p.Ile267Phe
XM_017026990.1:c.705+1698A>T XP_016882479.1:n.705+1698A>T
NM_030662.4:c.799A>T MANE Select NP_109587.1:p.Ile267Phe