Canonical Allele Identifier: CA2584878510

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2728553
• ClinVar RCV Id: RCV003540092
• gnomAD v4: 19-4099216-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099222del , CM000681.2:g.4099222del	GRCh38
NC_000019.9:g.4099220del , CM000681.1:g.4099220del	GRCh37
NC_000019.8:g.4050220del	NCBI36
NG_007996.1:g.29912del , LRG_750:g.29912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1342del
ENST00000687128.1:n.1342del
ENST00000688002.1:n.1197del
ENST00000689792.1:n.807del
ENST00000262948.10:c.903del MANE Select	ENSP00000262948.4:p.Arg303AlafsTer24
ENST00000262948.9:c.903del	ENSP00000262948.3:p.Arg303AlafsTer24
ENST00000394867.8:c.612del	ENSP00000378336.1:p.Arg206AlafsTer24
ENST00000593364.5:n.850del
ENST00000595715.1:n.718del
ENST00000597263.5:n.169+1802del
ENST00000599021.1:c.29+1802del
ENST00000600584.5:n.1463del
ENST00000601786.5:n.1204del
NM_030662.3:c.903del , LRG_750t1:c.903del	NP_109587.1:p.Arg303AlafsTer24
XM_006722799.2:c.705+1802del	XP_006722862.1:n.705+1802del
XM_011528133.1:c.333del	XP_011526435.1:p.Arg113AlafsTer24
XM_017026989.1:c.903del	XP_016882478.1:p.Arg303AlafsTer24
XM_017026990.1:c.705+1802del	XP_016882479.1:n.705+1802del
NM_030662.4:c.903del MANE Select	NP_109587.1:p.Arg303AlafsTer24