Canonical Allele Identifier: CA2584876668

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090611-CGCGTGGGTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090614_4090623del , CM000681.2:g.4090614_4090623del	GRCh38
NC_000019.9:g.4090612_4090621del , CM000681.1:g.4090612_4090621del	GRCh37
NC_000019.8:g.4041612_4041621del	NCBI36
NG_007996.1:g.38508_38517del , LRG_750:g.38508_38517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1619_1628del
ENST00000688002.1:n.3331_3340del
ENST00000688751.1:n.316_325del
ENST00000689792.1:n.1084_1093del
ENST00000262948.10:c.1180_1189del MANE Select	ENSP00000262948.4:p.Thr394AlafsTer29
ENST00000262948.9:c.1180_1189del	ENSP00000262948.3:p.Thr394AlafsTer29
ENST00000394867.8:c.889_898del	ENSP00000378336.1:p.Thr297AlafsTer29
ENST00000597263.5:n.365_374del
ENST00000599021.1:c.290_299del
ENST00000600584.5:n.2629_2638del
ENST00000601786.5:n.1481_1490del
NM_030662.3:c.1180_1189del , LRG_750t1:c.1180_1189del	NP_109587.1:p.Thr394AlafsTer29
XM_006722799.2:c.901_910del	XP_006722862.1:p.Thr301AlafsTer29
XM_011528133.1:c.610_619del	XP_011526435.1:p.Thr204AlafsTer29
NM_030662.4:c.1180_1189del MANE Select	NP_109587.1:p.Thr394AlafsTer29