Canonical Allele Identifier: CA403383420

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095434A>C (hg19) ; chr19:g.4095436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095436A>C , CM000681.2:g.4095436A>C	GRCh38
NC_000019.9:g.4095434A>C , CM000681.1:g.4095434A>C	GRCh37
NC_000019.8:g.4046434A>C	NCBI36
NG_007996.1:g.33693T>G , LRG_750:g.33693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1437T>G
ENST00000688002.1:n.3149T>G
ENST00000688751.1:n.134T>G
ENST00000689792.1:n.902T>G
ENST00000262948.10:c.998T>G MANE Select	ENSP00000262948.4:p.Leu333Arg
ENST00000262948.9:c.998T>G	ENSP00000262948.3:p.Leu333Arg
ENST00000394867.8:c.707T>G	ENSP00000378336.1:p.Leu236Arg
ENST00000595715.1:n.813T>G
ENST00000597263.5:n.183T>G
ENST00000599021.1:c.108T>G
ENST00000600584.5:n.1558T>G
ENST00000601786.5:n.1299T>G
NM_030662.3:c.998T>G , LRG_750t1:c.998T>G	NP_109587.1:p.Leu333Arg
XM_006722799.2:c.719T>G	XP_006722862.1:p.Leu240Arg
XM_011528133.1:c.428T>G	XP_011526435.1:p.Leu143Arg
XM_017026989.1:c.998T>G	XP_016882478.1:p.Leu333Arg
XM_017026990.1:c.719T>G	XP_016882479.1:p.Leu240Arg
NM_030662.4:c.998T>G MANE Select	NP_109587.1:p.Leu333Arg