Canonical Allele Identifier: CA403383230

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095400C>A (hg19) ; chr19:g.4095402C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095402C>A , CM000681.2:g.4095402C>A	GRCh38
NC_000019.9:g.4095400C>A , CM000681.1:g.4095400C>A	GRCh37
NC_000019.8:g.4046400C>A	NCBI36
NG_007996.1:g.33727G>T , LRG_750:g.33727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1471G>T
ENST00000688002.1:n.3183G>T
ENST00000688751.1:n.168G>T
ENST00000689792.1:n.936G>T
ENST00000262948.10:c.1032G>T MANE Select	ENSP00000262948.4:p.Glu344Asp
ENST00000262948.9:c.1032G>T	ENSP00000262948.3:p.Glu344Asp
ENST00000394867.8:c.741G>T	ENSP00000378336.1:p.Glu247Asp
ENST00000595715.1:n.847G>T
ENST00000597263.5:n.217G>T
ENST00000599021.1:c.142G>T
ENST00000600584.5:n.1592G>T
ENST00000601786.5:n.1333G>T
NM_030662.3:c.1032G>T , LRG_750t1:c.1032G>T	NP_109587.1:p.Glu344Asp
XM_006722799.2:c.753G>T	XP_006722862.1:p.Glu251Asp
XM_011528133.1:c.462G>T	XP_011526435.1:p.Glu154Asp
XM_017026989.1:c.1032G>T	XP_016882478.1:p.Glu344Asp
XM_017026990.1:c.753G>T	XP_016882479.1:p.Glu251Asp
NM_030662.4:c.1032G>T MANE Select	NP_109587.1:p.Glu344Asp