Canonical Allele Identifier: CA403383298
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095410A>G , CM000681.2:g.4095410A>G GRCh38
NC_000019.9:g.4095408A>G , CM000681.1:g.4095408A>G GRCh37
NC_000019.8:g.4046408A>G NCBI36
NG_007996.1:g.33719T>C , LRG_750:g.33719T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1463T>C
ENST00000688002.1:n.3175T>C
ENST00000688751.1:n.160T>C
ENST00000689792.1:n.928T>C
ENST00000262948.10:c.1024T>C MANE Select ENSP00000262948.4:p.Phe342Leu
ENST00000262948.9:c.1024T>C ENSP00000262948.3:p.Phe342Leu
ENST00000394867.8:c.733T>C ENSP00000378336.1:p.Phe245Leu
ENST00000595715.1:n.839T>C
ENST00000597263.5:n.209T>C
ENST00000599021.1:c.134T>C
ENST00000600584.5:n.1584T>C
ENST00000601786.5:n.1325T>C
NM_030662.3:c.1024T>C , LRG_750t1:c.1024T>C NP_109587.1:p.Phe342Leu
XM_006722799.2:c.745T>C XP_006722862.1:p.Phe249Leu
XM_011528133.1:c.454T>C XP_011526435.1:p.Phe152Leu
XM_017026989.1:c.1024T>C XP_016882478.1:p.Phe342Leu
XM_017026990.1:c.745T>C XP_016882479.1:p.Phe249Leu
NM_030662.4:c.1024T>C MANE Select NP_109587.1:p.Phe342Leu