Canonical Allele Identifier: CA2580096986

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2130213
• ClinVar RCV Id: RCV003044425

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099297_4099327del , CM000681.2:g.4099297_4099327del	GRCh38
NC_000019.9:g.4099295_4099325del , CM000681.1:g.4099295_4099325del	GRCh37
NC_000019.8:g.4050295_4050325del	NCBI36
NG_007996.1:g.29803_29833del , LRG_750:g.29803_29833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1233_1263del
ENST00000687128.1:n.1233_1263del
ENST00000688002.1:n.1088_1118del
ENST00000689792.1:n.698_728del
ENST00000262948.10:c.794_824del MANE Select	ENSP00000262948.4:p.Tyr265TrpfsTer?
ENST00000262948.9:c.794_824del	ENSP00000262948.3:p.Tyr265TrpfsTer?
ENST00000394867.8:c.503_533del	ENSP00000378336.1:p.Tyr168TrpfsTer?
ENST00000593364.5:n.741_771del
ENST00000595715.1:n.609_639del
ENST00000597263.5:n.169+1693_169+1723del
ENST00000599021.1:c.29+1693_29+1723del
ENST00000600584.5:n.1354_1384del
ENST00000601786.5:n.1095_1125del
NM_030662.3:c.794_824del , LRG_750t1:c.794_824del	NP_109587.1:p.Tyr265TrpfsTer?
XM_006722799.2:c.705+1693_705+1723del	XP_006722862.1:n.705+1693_705+1723del
XM_011528133.1:c.224_254del	XP_011526435.1:p.Tyr75TrpfsTer?
XM_017026989.1:c.794_824del	XP_016882478.1:p.Tyr265TrpfsTer?
XM_017026990.1:c.705+1693_705+1723del	XP_016882479.1:n.705+1693_705+1723del
NM_030662.4:c.794_824del MANE Select	NP_109587.1:p.Tyr265TrpfsTer?