Canonical Allele Identifier: CA2580096984

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2123037
• ClinVar RCV Id: RCV003047164

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095388_4095391del , CM000681.2:g.4095388_4095391del	GRCh38
NC_000019.9:g.4095386_4095389del , CM000681.1:g.4095386_4095389del	GRCh37
NC_000019.8:g.4046386_4046389del	NCBI36
NG_007996.1:g.33738_33741del , LRG_750:g.33738_33741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1482_1485del
ENST00000688002.1:n.3194_3197del
ENST00000688751.1:n.179_182del
ENST00000689792.1:n.947_950del
ENST00000262948.10:c.1043_1046del MANE Select	ENSP00000262948.4:p.Lys348ThrfsTer12
ENST00000262948.9:c.1043_1046del	ENSP00000262948.3:p.Lys348ThrfsTer12
ENST00000394867.8:c.752_755del	ENSP00000378336.1:p.Lys251ThrfsTer12
ENST00000595715.1:n.858_861del
ENST00000597263.5:n.228_231del
ENST00000599021.1:c.153_156del
ENST00000600584.5:n.1603_1606del
ENST00000601786.5:n.1344_1347del
NM_030662.3:c.1043_1046del , LRG_750t1:c.1043_1046del	NP_109587.1:p.Lys348ThrfsTer12
XM_006722799.2:c.764_767del	XP_006722862.1:p.Lys255ThrfsTer12
XM_011528133.1:c.473_476del	XP_011526435.1:p.Lys158ThrfsTer12
XM_017026989.1:c.1043_1046del	XP_016882478.1:p.Lys348SerfsTer?
XM_017026990.1:c.764_767del	XP_016882479.1:p.Lys255SerfsTer?
NM_030662.4:c.1043_1046del MANE Select	NP_109587.1:p.Lys348ThrfsTer12