Canonical Allele Identifier: CA2584878562

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099480-T-TGCCCCGTTACAGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099481_4099496dup , CM000681.2:g.4099481_4099496dup	GRCh38
NC_000019.9:g.4099479_4099494dup , CM000681.1:g.4099479_4099494dup	GRCh37
NC_000019.8:g.4050479_4050494dup	NCBI36
NG_007996.1:g.29633_29648dup , LRG_750:g.29633_29648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1145-82_1145-67dup
ENST00000687128.1:n.1145-82_1145-67dup
ENST00000688002.1:n.918_933dup
ENST00000689792.1:n.646-118_646-103dup
ENST00000262948.10:c.706-82_706-67dup MANE Select	ENSP00000262948.4:n.706-82_706-67dup
ENST00000262948.9:c.706-82_706-67dup	ENSP00000262948.3:n.706-82_706-67dup
ENST00000394867.8:c.415-82_415-67dup	ENSP00000378336.1:n.415-82_415-67dup
ENST00000593364.5:n.653-82_653-67dup
ENST00000595715.1:n.439_454dup
ENST00000597263.5:n.169+1523_169+1538dup
ENST00000599021.1:c.29+1523_29+1538dup
ENST00000600584.5:n.1184_1199dup
ENST00000601786.5:n.1007-82_1007-67dup
ENST00000602167.5:n.426-82_426-67dup
NM_030662.3:c.706-82_706-67dup , LRG_750t1:c.706-82_706-67dup	NP_109587.1:n.706-82_706-67dup
XM_006722799.2:c.705+1523_705+1538dup	XP_006722862.1:n.705+1523_705+1538dup
XM_011528133.1:c.136-82_136-67dup	XP_011526435.1:n.136-82_136-67dup
XM_017026989.1:c.706-82_706-67dup	XP_016882478.1:n.706-82_706-67dup
XM_017026990.1:c.705+1523_705+1538dup	XP_016882479.1:n.705+1523_705+1538dup
XM_017026991.1:c.*234_*249dup	XP_016882480.1:n.*234_*249dup
NM_030662.4:c.706-82_706-67dup MANE Select	NP_109587.1:n.706-82_706-67dup