Canonical Allele Identifier: CA2584878491

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099207-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099211del , CM000681.2:g.4099211del	GRCh38
NC_000019.9:g.4099209del , CM000681.1:g.4099209del	GRCh37
NC_000019.8:g.4050209del	NCBI36
NG_007996.1:g.29921del , LRG_750:g.29921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1351del
ENST00000687128.1:n.1351del
ENST00000688002.1:n.1206del
ENST00000689792.1:n.816del
ENST00000262948.10:c.912del MANE Select	ENSP00000262948.4:p.Val305SerfsTer22
ENST00000262948.9:c.912del	ENSP00000262948.3:p.Val305SerfsTer22
ENST00000394867.8:c.621del	ENSP00000378336.1:p.Val208SerfsTer22
ENST00000593364.5:n.859del
ENST00000595715.1:n.727del
ENST00000597263.5:n.169+1811del
ENST00000599021.1:c.29+1811del
ENST00000600584.5:n.1472del
ENST00000601786.5:n.1213del
NM_030662.3:c.912del , LRG_750t1:c.912del	NP_109587.1:p.Val305SerfsTer22
XM_006722799.2:c.705+1811del	XP_006722862.1:n.705+1811del
XM_011528133.1:c.342del	XP_011526435.1:p.Val115SerfsTer22
XM_017026989.1:c.912del	XP_016882478.1:p.Val305SerfsTer22
XM_017026990.1:c.705+1811del	XP_016882479.1:n.705+1811del
NM_030662.4:c.912del MANE Select	NP_109587.1:p.Val305SerfsTer22