Canonical Allele Identifier: CA2573155871

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1642672
• ClinVar RCV Id: RCV002143466
• dbSNP Id: rs2145081006
• gnomAD v4: 19-4117640-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117640C>A , CM000681.2:g.4117640C>A	GRCh38
NC_000019.9:g.4117638C>A , CM000681.1:g.4117638C>A	GRCh37
NC_000019.8:g.4068638C>A	NCBI36
NG_007996.1:g.11489G>T , LRG_750:g.11489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.521G>T
ENST00000687128.1:n.521G>T
ENST00000262948.10:c.93-11G>T MANE Select	ENSP00000262948.4:n.93-11G>T
ENST00000262948.9:c.93-11G>T	ENSP00000262948.3:n.93-11G>T
ENST00000394867.8:c.-199-11G>T	ENSP00000378336.1:n.-199-11G>T
ENST00000599345.1:n.290-11G>T
NM_030662.3:c.93-11G>T , LRG_750t1:c.93-11G>T	NP_109587.1:n.93-11G>T
XM_006722799.2:c.93-11G>T	XP_006722862.1:n.93-11G>T
XM_017026989.1:c.93-11G>T	XP_016882478.1:n.93-11G>T
XM_017026990.1:c.93-11G>T	XP_016882479.1:n.93-11G>T
XM_017026991.1:c.93-11G>T	XP_016882480.1:n.93-11G>T
NM_030662.4:c.93-11G>T MANE Select	NP_109587.1:n.93-11G>T