Canonical Allele Identifier: CA9090681

Gene: MAP2K2

Linked Data

• dbSNP Id: rs758299115
• ExAC: 19:4090606 G / A
• gnomAD v4: 19-4090608-G-A
• MyVariant Identifiers: chr19:g.4090606G>A (hg19) ; chr19:g.4090608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090608G>A , CM000681.2:g.4090608G>A	GRCh38
NC_000019.9:g.4090606G>A , CM000681.1:g.4090606G>A	GRCh37
NC_000019.8:g.4041606G>A	NCBI36
NG_007996.1:g.38521C>T , LRG_750:g.38521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1632C>T
ENST00000688002.1:n.3344C>T
ENST00000688751.1:n.329C>T
ENST00000689792.1:n.1097C>T
ENST00000262948.10:c.1193C>T MANE Select	ENSP00000262948.4:p.Thr398Ile
ENST00000262948.9:c.1193C>T	ENSP00000262948.3:p.Thr398Ile
ENST00000394867.8:c.902C>T	ENSP00000378336.1:p.Thr301Ile
ENST00000597263.5:n.378C>T
ENST00000599021.1:c.303C>T
ENST00000600584.5:n.2642C>T
ENST00000601786.5:n.1494C>T
NM_030662.3:c.1193C>T , LRG_750t1:c.1193C>T	NP_109587.1:p.Thr398Ile
XM_006722799.2:c.914C>T	XP_006722862.1:p.Thr305Ile
XM_011528133.1:c.623C>T	XP_011526435.1:p.Thr208Ile
NM_030662.4:c.1193C>T MANE Select	NP_109587.1:p.Thr398Ile