Canonical Allele Identifier: CA2584876592

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090517-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090518_4090520del , CM000681.2:g.4090518_4090520del	GRCh38
NC_000019.9:g.4090516_4090518del , CM000681.1:g.4090516_4090518del	GRCh37
NC_000019.8:g.4041516_4041518del	NCBI36
NG_007996.1:g.38609_38611del , LRG_750:g.38609_38611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1720_1722del
ENST00000688002.1:n.3432_3434del
ENST00000688751.1:n.417_419del
ENST00000689792.1:n.1185_1187del
ENST00000262948.10:c.*78_*80del MANE Select	ENSP00000262948.4:n.*78_*80del
ENST00000262948.9:c.*78_*80del	ENSP00000262948.3:n.*78_*80del
ENST00000394867.8:c.*78_*80del	ENSP00000378336.1:n.*78_*80del
ENST00000597263.5:n.466_468del
ENST00000600584.5:n.2730_2732del
ENST00000601786.5:n.1582_1584del
NM_030662.3:c.*78_*80del , LRG_750t1:c.*78_*80del	NP_109587.1:n.*78_*80del
XM_006722799.2:c.*78_*80del	XP_006722862.1:n.*78_*80del
XM_011528133.1:c.*78_*80del	XP_011526435.1:n.*78_*80del
NM_030662.4:c.*78_*80del MANE Select	NP_109587.1:n.*78_*80del