Canonical Allele Identifier: CA2576573244

Gene: MAP2K2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099403del , CM000681.2:g.4099403del	GRCh38
NC_000019.9:g.4099401del , CM000681.1:g.4099401del	GRCh37
NC_000019.8:g.4050401del	NCBI36
NG_007996.1:g.29726del , LRG_750:g.29726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1156del
ENST00000687128.1:n.1156del
ENST00000688002.1:n.1011del
ENST00000689792.1:n.646-25del
ENST00000262948.10:c.717del MANE Select	ENSP00000262948.4:p.Leu239PhefsTer?
ENST00000262948.9:c.717del	ENSP00000262948.3:p.Leu239PhefsTer?
ENST00000394867.8:c.426del	ENSP00000378336.1:p.Leu142PhefsTer?
ENST00000593364.5:n.664del
ENST00000595715.1:n.532del
ENST00000597263.5:n.169+1616del
ENST00000599021.1:c.29+1616del
ENST00000600584.5:n.1277del
ENST00000601786.5:n.1018del
NM_030662.3:c.717del , LRG_750t1:c.717del	NP_109587.1:p.Leu239PhefsTer?
XM_006722799.2:c.705+1616del	XP_006722862.1:n.705+1616del
XM_011528133.1:c.147del	XP_011526435.1:p.Leu49PhefsTer?
XM_017026989.1:c.717del	XP_016882478.1:p.Leu239PhefsTer?
XM_017026990.1:c.705+1616del	XP_016882479.1:n.705+1616del
NM_030662.4:c.717del MANE Select	NP_109587.1:p.Leu239PhefsTer?