Canonical Allele Identifier: CA403386807

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4099371G>T (hg19) ; chr19:g.4099373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099373G>T , CM000681.2:g.4099373G>T	GRCh38
NC_000019.9:g.4099371G>T , CM000681.1:g.4099371G>T	GRCh37
NC_000019.8:g.4050371G>T	NCBI36
NG_007996.1:g.29756C>A , LRG_750:g.29756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1186C>A
ENST00000687128.1:n.1186C>A
ENST00000688002.1:n.1041C>A
ENST00000689792.1:n.651C>A
ENST00000262948.10:c.747C>A MANE Select	ENSP00000262948.4:p.Asp249Glu
ENST00000262948.9:c.747C>A	ENSP00000262948.3:p.Asp249Glu
ENST00000394867.8:c.456C>A	ENSP00000378336.1:p.Asp152Glu
ENST00000593364.5:n.694C>A
ENST00000595715.1:n.562C>A
ENST00000597263.5:n.169+1646C>A
ENST00000599021.1:c.29+1646C>A
ENST00000600584.5:n.1307C>A
ENST00000601786.5:n.1048C>A
NM_030662.3:c.747C>A , LRG_750t1:c.747C>A	NP_109587.1:p.Asp249Glu
XM_006722799.2:c.705+1646C>A	XP_006722862.1:n.705+1646C>A
XM_011528133.1:c.177C>A	XP_011526435.1:p.Asp59Glu
XM_017026989.1:c.747C>A	XP_016882478.1:p.Asp249Glu
XM_017026990.1:c.705+1646C>A	XP_016882479.1:n.705+1646C>A
NM_030662.4:c.747C>A MANE Select	NP_109587.1:p.Asp249Glu