Canonical Allele Identifier: CA645605105

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099313-CG-C
• COSMIC: COSM5056661 ; COSM5056662

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099319del , CM000681.2:g.4099319del	GRCh38
NC_000019.9:g.4099317del , CM000681.1:g.4099317del	GRCh37
NC_000019.8:g.4050317del	NCBI36
NG_007996.1:g.29815del , LRG_750:g.29815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1245del
ENST00000687128.1:n.1245del
ENST00000688002.1:n.1100del
ENST00000689792.1:n.710del
ENST00000262948.10:c.806del MANE Select	ENSP00000262948.4:p.Pro269ArgfsTer?
ENST00000262948.9:c.806del	ENSP00000262948.3:p.Pro269ArgfsTer?
ENST00000394867.8:c.515del	ENSP00000378336.1:p.Pro172ArgfsTer?
ENST00000593364.5:n.753del
ENST00000595715.1:n.621del
ENST00000597263.5:n.169+1705del
ENST00000599021.1:c.29+1705del
ENST00000600584.5:n.1366del
ENST00000601786.5:n.1107del
NM_030662.3:c.806del , LRG_750t1:c.806del	NP_109587.1:p.Pro269ArgfsTer?
XM_006722799.2:c.705+1705del	XP_006722862.1:n.705+1705del
XM_011528133.1:c.236del	XP_011526435.1:p.Pro79ArgfsTer?
XM_017026989.1:c.806del	XP_016882478.1:p.Pro269ArgfsTer?
XM_017026990.1:c.705+1705del	XP_016882479.1:n.705+1705del
NM_030662.4:c.806del MANE Select	NP_109587.1:p.Pro269ArgfsTer?