Canonical Allele Identifier: CA296163

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 180910
• ClinVar RCV Id: RCV000158036 ; RCV001056752
• dbSNP Id: rs730880516
• gnomAD v2: 19-4090610-G-A
• gnomAD v4: 19-4090612-G-A
• COSMIC: COSM5435666 ; COSM5435667
• MyVariant Identifiers: chr19:g.4090610G>A (hg19) ; chr19:g.4090612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090612G>A , CM000681.2:g.4090612G>A	GRCh38
NC_000019.9:g.4090610G>A , CM000681.1:g.4090610G>A	GRCh37
NC_000019.8:g.4041610G>A	NCBI36
NG_007996.1:g.38517C>T , LRG_750:g.38517C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1628C>T
ENST00000688002.1:n.3340C>T
ENST00000688751.1:n.325C>T
ENST00000689792.1:n.1093C>T
ENST00000262948.10:c.1189C>T MANE Select	ENSP00000262948.4:p.Arg397Cys
ENST00000262948.9:c.1189C>T	ENSP00000262948.3:p.Arg397Cys
ENST00000394867.8:c.898C>T	ENSP00000378336.1:p.Arg300Cys
ENST00000597263.5:n.374C>T
ENST00000599021.1:c.299C>T
ENST00000600584.5:n.2638C>T
ENST00000601786.5:n.1490C>T
NM_030662.3:c.1189C>T , LRG_750t1:c.1189C>T	NP_109587.1:p.Arg397Cys
XM_006722799.2:c.910C>T	XP_006722862.1:p.Arg304Cys
XM_011528133.1:c.619C>T	XP_011526435.1:p.Arg207Cys
NM_030662.4:c.1189C>T MANE Select	NP_109587.1:p.Arg397Cys