Canonical Allele Identifier: CA2576573122
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090602del , CM000681.2:g.4090602del GRCh38
NC_000019.9:g.4090600del , CM000681.1:g.4090600del GRCh37
NC_000019.8:g.4041600del NCBI36
NG_007996.1:g.38527del , LRG_750:g.38527del

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1638del
ENST00000688002.1:n.3350del
ENST00000688751.1:n.335del
ENST00000689792.1:n.1103del
ENST00000262948.10:c.1199del MANE Select ENSP00000262948.4:p.Val400GlyfsTer26
ENST00000262948.9:c.1199del ENSP00000262948.3:p.Val400GlyfsTer26
ENST00000394867.8:c.908del ENSP00000378336.1:p.Val303GlyfsTer26
ENST00000597263.5:n.384del
ENST00000599021.1:c.309del
ENST00000600584.5:n.2648del
ENST00000601786.5:n.1500del
NM_030662.3:c.1199del , LRG_750t1:c.1199del NP_109587.1:p.Val400GlyfsTer26
XM_006722799.2:c.920del XP_006722862.1:p.Val307GlyfsTer26
XM_011528133.1:c.629del XP_011526435.1:p.Val210GlyfsTer26
NM_030662.4:c.1199del MANE Select NP_109587.1:p.Val400GlyfsTer26