Canonical Allele Identifier: CA403387927

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4099401C>A (hg19) ; chr19:g.4099403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099403C>A , CM000681.2:g.4099403C>A	GRCh38
NC_000019.9:g.4099401C>A , CM000681.1:g.4099401C>A	GRCh37
NC_000019.8:g.4050401C>A	NCBI36
NG_007996.1:g.29726G>T , LRG_750:g.29726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1156G>T
ENST00000687128.1:n.1156G>T
ENST00000688002.1:n.1011G>T
ENST00000689792.1:n.646-25G>T
ENST00000262948.10:c.717G>T MANE Select	ENSP00000262948.4:p.Leu239Phe
ENST00000262948.9:c.717G>T	ENSP00000262948.3:p.Leu239Phe
ENST00000394867.8:c.426G>T	ENSP00000378336.1:p.Leu142Phe
ENST00000593364.5:n.664G>T
ENST00000595715.1:n.532G>T
ENST00000597263.5:n.169+1616G>T
ENST00000599021.1:c.29+1616G>T
ENST00000600584.5:n.1277G>T
ENST00000601786.5:n.1018G>T
NM_030662.3:c.717G>T , LRG_750t1:c.717G>T	NP_109587.1:p.Leu239Phe
XM_006722799.2:c.705+1616G>T	XP_006722862.1:n.705+1616G>T
XM_011528133.1:c.147G>T	XP_011526435.1:p.Leu49Phe
XM_017026989.1:c.717G>T	XP_016882478.1:p.Leu239Phe
XM_017026990.1:c.705+1616G>T	XP_016882479.1:n.705+1616G>T
NM_030662.4:c.717G>T MANE Select	NP_109587.1:p.Leu239Phe