Canonical Allele Identifier: CA2584878512

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099273-CGGGCCGGCCAAAGATGGCCTCCAGCTCTTTGGCGTCGGGCGGGGGGATGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099275_4099325del , CM000681.2:g.4099275_4099325del	GRCh38
NC_000019.9:g.4099273_4099323del , CM000681.1:g.4099273_4099323del	GRCh37
NC_000019.8:g.4050273_4050323del	NCBI36
NG_007996.1:g.29805_29855del , LRG_750:g.29805_29855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1235_1285del
ENST00000687128.1:n.1235_1285del
ENST00000688002.1:n.1090_1140del
ENST00000689792.1:n.700_750del
ENST00000262948.10:c.796_846del MANE Select	ENSP00000262948.4:p.Pro266_Pro282del
ENST00000262948.9:c.796_846del	ENSP00000262948.3:p.Pro266_Pro282del
ENST00000394867.8:c.505_555del	ENSP00000378336.1:p.Pro169_Pro185del
ENST00000593364.5:n.743_793del
ENST00000595715.1:n.611_661del
ENST00000597263.5:n.169+1695_169+1745del
ENST00000599021.1:c.29+1695_29+1745del
ENST00000600584.5:n.1356_1406del
ENST00000601786.5:n.1097_1147del
NM_030662.3:c.796_846del , LRG_750t1:c.796_846del	NP_109587.1:p.Pro266_Pro282del
XM_006722799.2:c.705+1695_705+1745del	XP_006722862.1:n.705+1695_705+1745del
XM_011528133.1:c.226_276del	XP_011526435.1:p.Pro76_Pro92del
XM_017026989.1:c.796_846del	XP_016882478.1:p.Pro266_Pro282del
XM_017026990.1:c.705+1695_705+1745del	XP_016882479.1:n.705+1695_705+1745del
NM_030662.4:c.796_846del MANE Select	NP_109587.1:p.Pro266_Pro282del