Canonical Allele Identifier: CA403380942

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4090652A>T (hg19) ; chr19:g.4090654A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090654A>T , CM000681.2:g.4090654A>T	GRCh38
NC_000019.9:g.4090652A>T , CM000681.1:g.4090652A>T	GRCh37
NC_000019.8:g.4041652A>T	NCBI36
NG_007996.1:g.38475T>A , LRG_750:g.38475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1586T>A
ENST00000688002.1:n.3298T>A
ENST00000688751.1:n.283T>A
ENST00000689792.1:n.1051T>A
ENST00000262948.10:c.1147T>A MANE Select	ENSP00000262948.4:p.Leu383Met
ENST00000262948.9:c.1147T>A	ENSP00000262948.3:p.Leu383Met
ENST00000394867.8:c.856T>A	ENSP00000378336.1:p.Leu286Met
ENST00000597263.5:n.332T>A
ENST00000599021.1:c.257T>A
ENST00000600584.5:n.2596T>A
ENST00000601786.5:n.1448T>A
NM_030662.3:c.1147T>A , LRG_750t1:c.1147T>A	NP_109587.1:p.Leu383Met
XM_006722799.2:c.868T>A	XP_006722862.1:p.Leu290Met
XM_011528133.1:c.577T>A	XP_011526435.1:p.Leu193Met
NM_030662.4:c.1147T>A MANE Select	NP_109587.1:p.Leu383Met