Canonical Allele Identifier: CA631537055

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1568247649
• gnomAD v2: 19-4090587-CG-C
• gnomAD v4: 19-4090589-CG-C
• MyVariant Identifiers: chr19:g.4090588del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090591del , CM000681.2:g.4090591del	GRCh38
NC_000019.9:g.4090589del , CM000681.1:g.4090589del	GRCh37
NC_000019.8:g.4041589del	NCBI36
NG_007996.1:g.38539del , LRG_750:g.38539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1650del
ENST00000688002.1:n.3362del
ENST00000688751.1:n.347del
ENST00000689792.1:n.1115del
ENST00000262948.10:c.*8del MANE Select	ENSP00000262948.4:n.*8del
ENST00000262948.9:c.*8del	ENSP00000262948.3:n.*8del
ENST00000394867.8:c.*8del	ENSP00000378336.1:n.*8del
ENST00000597263.5:n.396del
ENST00000600584.5:n.2660del
ENST00000601786.5:n.1512del
NM_030662.3:c.*8del , LRG_750t1:c.*8del	NP_109587.1:n.*8del
XM_006722799.2:c.*8del	XP_006722862.1:n.*8del
XM_011528133.1:c.*8del	XP_011526435.1:n.*8del
NM_030662.4:c.*8del MANE Select	NP_109587.1:n.*8del