Canonical Allele Identifier: CA180944

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 40813
• ClinVar RCV Id: RCV000158024 ; RCV000254662 ; RCV000524055 ; RCV000844675
• dbSNP Id: rs727504382
• COSMIC: COSM232757 ; COSM5574290
• MyVariant Identifiers: chr19:g.4101103C>T (hg19) ; chr19:g.4101105C>T (hg38)
• ERepo: CA180944/MONDO:0015280/004

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4101105C>T , CM000681.2:g.4101105C>T	GRCh38
NC_000019.9:g.4101103C>T , CM000681.1:g.4101103C>T	GRCh37
NC_000019.8:g.4052103C>T	NCBI36
NG_007996.1:g.28024G>A , LRG_750:g.28024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1058G>A
ENST00000687128.1:n.1058G>A
ENST00000689792.1:n.559G>A
ENST00000262948.10:c.619G>A MANE Select	ENSP00000262948.4:p.Glu207Lys
ENST00000262948.9:c.619G>A	ENSP00000262948.3:p.Glu207Lys
ENST00000394867.8:c.328G>A	ENSP00000378336.1:p.Glu110Lys
ENST00000593364.5:n.566G>A
ENST00000597008.5:n.220G>A
ENST00000597263.5:n.83G>A
ENST00000599345.1:n.889G>A
ENST00000601786.5:n.920G>A
ENST00000602167.5:n.339G>A
NM_030662.3:c.619G>A , LRG_750t1:c.619G>A	NP_109587.1:p.Glu207Lys
XM_006722799.2:c.619G>A	XP_006722862.1:p.Glu207Lys
XM_011528133.1:c.49G>A	XP_011526435.1:p.Glu17Lys
XM_017026989.1:c.619G>A	XP_016882478.1:p.Glu207Lys
XM_017026990.1:c.619G>A	XP_016882479.1:p.Glu207Lys
XM_017026991.1:c.619G>A	XP_016882480.1:p.Glu207Lys
NM_030662.4:c.619G>A MANE Select	NP_109587.1:p.Glu207Lys