Canonical Allele Identifier: CA403383412

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095431G>T (hg19) ; chr19:g.4095433G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095433G>T , CM000681.2:g.4095433G>T	GRCh38
NC_000019.9:g.4095431G>T , CM000681.1:g.4095431G>T	GRCh37
NC_000019.8:g.4046431G>T	NCBI36
NG_007996.1:g.33696C>A , LRG_750:g.33696C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1440C>A
ENST00000688002.1:n.3152C>A
ENST00000688751.1:n.137C>A
ENST00000689792.1:n.905C>A
ENST00000262948.10:c.1001C>A MANE Select	ENSP00000262948.4:p.Pro334His
ENST00000262948.9:c.1001C>A	ENSP00000262948.3:p.Pro334His
ENST00000394867.8:c.710C>A	ENSP00000378336.1:p.Pro237His
ENST00000595715.1:n.816C>A
ENST00000597263.5:n.186C>A
ENST00000599021.1:c.111C>A
ENST00000600584.5:n.1561C>A
ENST00000601786.5:n.1302C>A
NM_030662.3:c.1001C>A , LRG_750t1:c.1001C>A	NP_109587.1:p.Pro334His
XM_006722799.2:c.722C>A	XP_006722862.1:p.Pro241His
XM_011528133.1:c.431C>A	XP_011526435.1:p.Pro144His
XM_017026989.1:c.1001C>A	XP_016882478.1:p.Pro334His
XM_017026990.1:c.722C>A	XP_016882479.1:p.Pro241His
NM_030662.4:c.1001C>A MANE Select	NP_109587.1:p.Pro334His