Canonical Allele Identifier: CA2319224522

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040971239
• gnomAD v4: 19-4099534-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099539_4099540del , CM000681.2:g.4099539_4099540del	GRCh38
NC_000019.9:g.4099537_4099538del , CM000681.1:g.4099537_4099538del	GRCh37
NC_000019.8:g.4050537_4050538del	NCBI36
NG_007996.1:g.29593_29594del , LRG_750:g.29593_29594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-122_1145-121del
ENST00000687128.1:n.1145-122_1145-121del
ENST00000688002.1:n.878_879del
ENST00000689792.1:n.646-158_646-157del
ENST00000262948.10:c.706-122_706-121del MANE Select	ENSP00000262948.4:n.706-122_706-121del
ENST00000262948.9:c.706-122_706-121del	ENSP00000262948.3:n.706-122_706-121del
ENST00000394867.8:c.415-122_415-121del	ENSP00000378336.1:n.415-122_415-121del
ENST00000593364.5:n.653-122_653-121del
ENST00000595715.1:n.399_400del
ENST00000597263.5:n.169+1483_169+1484del
ENST00000599021.1:c.29+1483_29+1484del
ENST00000600584.5:n.1144_1145del
ENST00000601786.5:n.1007-122_1007-121del
ENST00000602167.5:n.426-122_426-121del
NM_030662.3:c.706-122_706-121del , LRG_750t1:c.706-122_706-121del	NP_109587.1:n.706-122_706-121del
XM_006722799.2:c.705+1483_705+1484del	XP_006722862.1:n.705+1483_705+1484del
XM_011528133.1:c.136-122_136-121del	XP_011526435.1:n.136-122_136-121del
XM_017026989.1:c.706-122_706-121del	XP_016882478.1:n.706-122_706-121del
XM_017026990.1:c.705+1483_705+1484del	XP_016882479.1:n.705+1483_705+1484del
XM_017026991.1:c.*194_*195del	XP_016882480.1:n.*194_*195del
NM_030662.4:c.706-122_706-121del MANE Select	NP_109587.1:n.706-122_706-121del