Canonical Allele Identifier: CA915951620

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 655002
• ClinVar RCV Id: RCV000811084 ; RCV000825042
• dbSNP Id: rs1599287155

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099414_4099415delinsAA , CM000681.2:g.4099414_4099415delinsAA	GRCh38
NC_000019.9:g.4099412_4099413delinsAA , CM000681.1:g.4099412_4099413delinsAA	GRCh37
NC_000019.8:g.4050412_4050413delinsAA	NCBI36
NG_007996.1:g.29714_29715delinsTT , LRG_750:g.29714_29715delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-1_1145delinsTT
ENST00000687128.1:n.1145-1_1145delinsTT
ENST00000688002.1:n.999_1000delinsTT
ENST00000689792.1:n.646-37_646-36delinsTT
ENST00000262948.10:c.706-1_706delinsTT
ENST00000262948.9:c.706-1_706delinsTT
ENST00000394867.8:c.415-1_415delinsTT
ENST00000593364.5:n.653-1_653delinsTT
ENST00000595715.1:n.520_521delinsTT
ENST00000597263.5:n.169+1604_169+1605delinsTT
ENST00000599021.1:c.29+1604_29+1605delinsTT
ENST00000600584.5:n.1265_1266delinsTT
ENST00000601786.5:n.1007-1_1007delinsTT
ENST00000602167.5:n.426-1_426delinsTT
NM_030662.3:c.706-1_706delinsTT , LRG_750t1:c.706-1_706delinsTT
XM_006722799.2:c.705+1604_705+1605delinsTT	XP_006722862.1:n.705+1604_705+1605delinsTT
XM_011528133.1:c.136-1_136delinsTT
XM_017026989.1:c.706-1_706delinsTT
XM_017026990.1:c.705+1604_705+1605delinsTT	XP_016882479.1:n.705+1604_705+1605delinsTT
NM_030662.4:c.706-1_706delinsTT