Canonical Allele Identifier: CA2319221773

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040889177
• gnomAD v4: 19-4094619-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094626_4094627del , CM000681.2:g.4094626_4094627del	GRCh38
NC_000019.9:g.4094624_4094625del , CM000681.1:g.4094624_4094625del	GRCh37
NC_000019.8:g.4045624_4045625del	NCBI36
NG_007996.1:g.34508_34509del , LRG_750:g.34508_34509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-123_1486-122del
ENST00000688002.1:n.3198-123_3198-122del
ENST00000688751.1:n.183-123_183-122del
ENST00000689792.1:n.951-123_951-122del
ENST00000262948.10:c.1047-123_1047-122del MANE Select	ENSP00000262948.4:n.1047-123_1047-122del
ENST00000262948.9:c.1047-123_1047-122del	ENSP00000262948.3:n.1047-123_1047-122del
ENST00000394867.8:c.756-123_756-122del	ENSP00000378336.1:n.756-123_756-122del
ENST00000597263.5:n.232-123_232-122del
ENST00000599021.1:c.157-123_157-122del
ENST00000600584.5:n.2373_2374del
ENST00000601786.5:n.1348-123_1348-122del
NM_030662.3:c.1047-123_1047-122del , LRG_750t1:c.1047-123_1047-122del	NP_109587.1:n.1047-123_1047-122del
XM_006722799.2:c.768-123_768-122del	XP_006722862.1:n.768-123_768-122del
XM_011528133.1:c.477-123_477-122del	XP_011526435.1:n.477-123_477-122del
XM_017026989.1:c.1472_1473del	XP_016882478.1:p.Ser491TrpfsTer?
XM_017026990.1:c.1193_1194del	XP_016882479.1:p.Ser398TrpfsTer?
NM_030662.4:c.1047-123_1047-122del MANE Select	NP_109587.1:n.1047-123_1047-122del