Canonical Allele Identifier: CA2584878509

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099213-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099216del , CM000681.2:g.4099216del	GRCh38
NC_000019.9:g.4099214del , CM000681.1:g.4099214del	GRCh37
NC_000019.8:g.4050214del	NCBI36
NG_007996.1:g.29915del , LRG_750:g.29915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1345del
ENST00000687128.1:n.1345del
ENST00000688002.1:n.1200del
ENST00000689792.1:n.810del
ENST00000262948.10:c.906del MANE Select	ENSP00000262948.4:p.Arg303AlafsTer24
ENST00000262948.9:c.906del	ENSP00000262948.3:p.Arg303AlafsTer24
ENST00000394867.8:c.615del	ENSP00000378336.1:p.Arg206AlafsTer24
ENST00000593364.5:n.853del
ENST00000595715.1:n.721del
ENST00000597263.5:n.169+1805del
ENST00000599021.1:c.29+1805del
ENST00000600584.5:n.1466del
ENST00000601786.5:n.1207del
NM_030662.3:c.906del , LRG_750t1:c.906del	NP_109587.1:p.Arg303AlafsTer24
XM_006722799.2:c.705+1805del	XP_006722862.1:n.705+1805del
XM_011528133.1:c.336del	XP_011526435.1:p.Arg113AlafsTer24
XM_017026989.1:c.906del	XP_016882478.1:p.Arg303AlafsTer24
XM_017026990.1:c.705+1805del	XP_016882479.1:n.705+1805del
NM_030662.4:c.906del MANE Select	NP_109587.1:p.Arg303AlafsTer24