Canonical Allele Identifier: CA403387982

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4099411-C-A
• MyVariant Identifiers: chr19:g.4099409C>A (hg19) ; chr19:g.4099411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099411C>A , CM000681.2:g.4099411C>A	GRCh38
NC_000019.9:g.4099409C>A , CM000681.1:g.4099409C>A	GRCh37
NC_000019.8:g.4050409C>A	NCBI36
NG_007996.1:g.29718G>T , LRG_750:g.29718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1148G>T
ENST00000687128.1:n.1148G>T
ENST00000688002.1:n.1003G>T
ENST00000689792.1:n.646-33G>T
ENST00000262948.10:c.709G>T MANE Select	ENSP00000262948.4:p.Glu237Ter
ENST00000262948.9:c.709G>T	ENSP00000262948.3:p.Glu237Ter
ENST00000394867.8:c.418G>T	ENSP00000378336.1:p.Glu140Ter
ENST00000593364.5:n.656G>T
ENST00000595715.1:n.524G>T
ENST00000597263.5:n.169+1608G>T
ENST00000599021.1:c.29+1608G>T
ENST00000600584.5:n.1269G>T
ENST00000601786.5:n.1010G>T
ENST00000602167.5:n.429G>T
NM_030662.3:c.709G>T , LRG_750t1:c.709G>T	NP_109587.1:p.Glu237Ter
XM_006722799.2:c.705+1608G>T	XP_006722862.1:n.705+1608G>T
XM_011528133.1:c.139G>T	XP_011526435.1:p.Glu47Ter
XM_017026989.1:c.709G>T	XP_016882478.1:p.Glu237Ter
XM_017026990.1:c.705+1608G>T	XP_016882479.1:n.705+1608G>T
NM_030662.4:c.709G>T MANE Select	NP_109587.1:p.Glu237Ter