Canonical Allele Identifier: CA16620849

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 420458
• ClinVar RCV Id: RCV000481333 ; RCV001174840
• dbSNP Id: rs1064794489

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099189_4099191delinsCTT , CM000681.2:g.4099189_4099191delinsCTT	GRCh38
NC_000019.9:g.4099187_4099189delinsCTT , CM000681.1:g.4099187_4099189delinsCTT	GRCh37
NC_000019.8:g.4050187_4050189delinsCTT	NCBI36
NG_007996.1:g.29938_29940delinsAAG , LRG_750:g.29938_29940delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+10_1358+12delinsAAG
ENST00000687128.1:n.1368_1370delinsAAG
ENST00000688002.1:n.1223_1225delinsAAG
ENST00000689792.1:n.823+10_823+12delinsAAG
ENST00000262948.10:c.919+10_919+12delinsAAG MANE Select	ENSP00000262948.4:n.919+10_919+12delinsAAG
ENST00000262948.9:c.919+10_919+12delinsAAG	ENSP00000262948.3:n.919+10_919+12delinsAAG
ENST00000394867.8:c.628+10_628+12delinsAAG	ENSP00000378336.1:n.628+10_628+12delinsAAG
ENST00000595715.1:n.734+10_734+12delinsAAG
ENST00000597263.5:n.169+1828_169+1830delinsAAG
ENST00000599021.1:c.29+1828_29+1830delinsAAG
ENST00000600584.5:n.1479+10_1479+12delinsAAG
ENST00000601786.5:n.1220+10_1220+12delinsAAG
NM_030662.3:c.919+10_919+12delinsAAG , LRG_750t1:c.919+10_919+12delinsAAG	NP_109587.1:n.919+10_919+12delinsAAG
XM_006722799.2:c.705+1828_705+1830delinsAAG	XP_006722862.1:n.705+1828_705+1830delinsAAG
XM_011528133.1:c.349+10_349+12delinsAAG	XP_011526435.1:n.349+10_349+12delinsAAG
XM_017026989.1:c.919+10_919+12delinsAAG	XP_016882478.1:n.919+10_919+12delinsAAG
XM_017026990.1:c.705+1828_705+1830delinsAAG	XP_016882479.1:n.705+1828_705+1830delinsAAG
NM_030662.4:c.919+10_919+12delinsAAG MANE Select	NP_109587.1:n.919+10_919+12delinsAAG