Canonical Allele Identifier: CA403387914

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2145050511
• gnomAD v4: 19-4099401-T-A
• MyVariant Identifiers: chr19:g.4099399T>A (hg19) ; chr19:g.4099401T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099401T>A , CM000681.2:g.4099401T>A	GRCh38
NC_000019.9:g.4099399T>A , CM000681.1:g.4099399T>A	GRCh37
NC_000019.8:g.4050399T>A	NCBI36
NG_007996.1:g.29728A>T , LRG_750:g.29728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1158A>T
ENST00000687128.1:n.1158A>T
ENST00000688002.1:n.1013A>T
ENST00000689792.1:n.646-23A>T
ENST00000262948.10:c.719A>T MANE Select	ENSP00000262948.4:p.Gln240Leu
ENST00000262948.9:c.719A>T	ENSP00000262948.3:p.Gln240Leu
ENST00000394867.8:c.428A>T	ENSP00000378336.1:p.Gln143Leu
ENST00000593364.5:n.666A>T
ENST00000595715.1:n.534A>T
ENST00000597263.5:n.169+1618A>T
ENST00000599021.1:c.29+1618A>T
ENST00000600584.5:n.1279A>T
ENST00000601786.5:n.1020A>T
NM_030662.3:c.719A>T , LRG_750t1:c.719A>T	NP_109587.1:p.Gln240Leu
XM_006722799.2:c.705+1618A>T	XP_006722862.1:n.705+1618A>T
XM_011528133.1:c.149A>T	XP_011526435.1:p.Gln50Leu
XM_017026989.1:c.719A>T	XP_016882478.1:p.Gln240Leu
XM_017026990.1:c.705+1618A>T	XP_016882479.1:n.705+1618A>T
NM_030662.4:c.719A>T MANE Select	NP_109587.1:p.Gln240Leu