Canonical Allele Identifier: CA403382561

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4094495G>C (hg19) ; chr19:g.4094497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094497G>C , CM000681.2:g.4094497G>C	GRCh38
NC_000019.9:g.4094495G>C , CM000681.1:g.4094495G>C	GRCh37
NC_000019.8:g.4045495G>C	NCBI36
NG_007996.1:g.34632C>G , LRG_750:g.34632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1487C>G
ENST00000688002.1:n.3199C>G
ENST00000688751.1:n.184C>G
ENST00000689792.1:n.952C>G
ENST00000262948.10:c.1048C>G MANE Select	ENSP00000262948.4:p.Leu350Val
ENST00000262948.9:c.1048C>G	ENSP00000262948.3:p.Leu350Val
ENST00000394867.8:c.757C>G	ENSP00000378336.1:p.Leu253Val
ENST00000597263.5:n.233C>G
ENST00000599021.1:c.158C>G
ENST00000600584.5:n.2497C>G
ENST00000601786.5:n.1349C>G
NM_030662.3:c.1048C>G , LRG_750t1:c.1048C>G	NP_109587.1:p.Leu350Val
XM_006722799.2:c.769C>G	XP_006722862.1:p.Leu257Val
XM_011528133.1:c.478C>G	XP_011526435.1:p.Leu160Val
NM_030662.4:c.1048C>G MANE Select	NP_109587.1:p.Leu350Val