Canonical Allele Identifier: CA403383125

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2631794
• ClinVar RCV Id: RCV003397566 ; RCV003655425
• MyVariant Identifiers: chr19:g.4095389T>C (hg19) ; chr19:g.4095391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095391T>C , CM000681.2:g.4095391T>C	GRCh38
NC_000019.9:g.4095389T>C , CM000681.1:g.4095389T>C	GRCh37
NC_000019.8:g.4046389T>C	NCBI36
NG_007996.1:g.33738A>G , LRG_750:g.33738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1482A>G
ENST00000688002.1:n.3194A>G
ENST00000688751.1:n.179A>G
ENST00000689792.1:n.947A>G
ENST00000262948.10:c.1043A>G MANE Select	ENSP00000262948.4:p.Lys348Arg
ENST00000262948.9:c.1043A>G	ENSP00000262948.3:p.Lys348Arg
ENST00000394867.8:c.752A>G	ENSP00000378336.1:p.Lys251Arg
ENST00000595715.1:n.858A>G
ENST00000597263.5:n.228A>G
ENST00000599021.1:c.153A>G
ENST00000600584.5:n.1603A>G
ENST00000601786.5:n.1344A>G
NM_030662.3:c.1043A>G , LRG_750t1:c.1043A>G	NP_109587.1:p.Lys348Arg
XM_006722799.2:c.764A>G	XP_006722862.1:p.Lys255Arg
XM_011528133.1:c.473A>G	XP_011526435.1:p.Lys158Arg
XM_017026989.1:c.1043A>G	XP_016882478.1:p.Lys348Arg
XM_017026990.1:c.764A>G	XP_016882479.1:p.Lys255Arg
NM_030662.4:c.1043A>G MANE Select	NP_109587.1:p.Lys348Arg