Canonical Allele Identifier: CA2584876667

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090602-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090603del , CM000681.2:g.4090603del	GRCh38
NC_000019.9:g.4090601del , CM000681.1:g.4090601del	GRCh37
NC_000019.8:g.4041601del	NCBI36
NG_007996.1:g.38526del , LRG_750:g.38526del

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1637del
ENST00000688002.1:n.3349del
ENST00000688751.1:n.334del
ENST00000689792.1:n.1102del
ENST00000262948.10:c.1198del MANE Select	ENSP00000262948.4:p.Val400CysfsTer26
ENST00000262948.9:c.1198del	ENSP00000262948.3:p.Val400CysfsTer26
ENST00000394867.8:c.907del	ENSP00000378336.1:p.Val303CysfsTer26
ENST00000597263.5:n.383del
ENST00000599021.1:c.308del
ENST00000600584.5:n.2647del
ENST00000601786.5:n.1499del
NM_030662.3:c.1198del , LRG_750t1:c.1198del	NP_109587.1:p.Val400CysfsTer26
XM_006722799.2:c.919del	XP_006722862.1:p.Val307CysfsTer26
XM_011528133.1:c.628del	XP_011526435.1:p.Val210CysfsTer26
NM_030662.4:c.1198del MANE Select	NP_109587.1:p.Val400CysfsTer26