Canonical Allele Identifier: CA2584878513

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099296-AGCTCTTTGGCGTCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099299_4099313del , CM000681.2:g.4099299_4099313del	GRCh38
NC_000019.9:g.4099297_4099311del , CM000681.1:g.4099297_4099311del	GRCh37
NC_000019.8:g.4050297_4050311del	NCBI36
NG_007996.1:g.29818_29832del , LRG_750:g.29818_29832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1248_1262del
ENST00000687128.1:n.1248_1262del
ENST00000688002.1:n.1103_1117del
ENST00000689792.1:n.713_727del
ENST00000262948.10:c.809_823del MANE Select	ENSP00000262948.4:p.Pro270_Glu274del
ENST00000262948.9:c.809_823del	ENSP00000262948.3:p.Pro270_Glu274del
ENST00000394867.8:c.518_532del	ENSP00000378336.1:p.Pro173_Glu177del
ENST00000593364.5:n.756_770del
ENST00000595715.1:n.624_638del
ENST00000597263.5:n.169+1708_169+1722del
ENST00000599021.1:c.29+1708_29+1722del
ENST00000600584.5:n.1369_1383del
ENST00000601786.5:n.1110_1124del
NM_030662.3:c.809_823del , LRG_750t1:c.809_823del	NP_109587.1:p.Pro270_Glu274del
XM_006722799.2:c.705+1708_705+1722del	XP_006722862.1:n.705+1708_705+1722del
XM_011528133.1:c.239_253del	XP_011526435.1:p.Pro80_Glu84del
XM_017026989.1:c.809_823del	XP_016882478.1:p.Pro270_Glu274del
XM_017026990.1:c.705+1708_705+1722del	XP_016882479.1:n.705+1708_705+1722del
NM_030662.4:c.809_823del MANE Select	NP_109587.1:p.Pro270_Glu274del