Canonical Allele Identifier: CA296160

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 180909
• ClinVar RCV Id: RCV000158035 ; RCV003654214
• dbSNP Id: rs730880515
• gnomAD v3: 19-4090621-T-A
• gnomAD v4: 19-4090621-T-A
• MyVariant Identifiers: chr19:g.4090619T>A (hg19) ; chr19:g.4090621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090621T>A , CM000681.2:g.4090621T>A	GRCh38
NC_000019.9:g.4090619T>A , CM000681.1:g.4090619T>A	GRCh37
NC_000019.8:g.4041619T>A	NCBI36
NG_007996.1:g.38508A>T , LRG_750:g.38508A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1619A>T
ENST00000688002.1:n.3331A>T
ENST00000688751.1:n.316A>T
ENST00000689792.1:n.1084A>T
ENST00000262948.10:c.1180A>T MANE Select	ENSP00000262948.4:p.Thr394Ser
ENST00000262948.9:c.1180A>T	ENSP00000262948.3:p.Thr394Ser
ENST00000394867.8:c.889A>T	ENSP00000378336.1:p.Thr297Ser
ENST00000597263.5:n.365A>T
ENST00000599021.1:c.290A>T
ENST00000600584.5:n.2629A>T
ENST00000601786.5:n.1481A>T
NM_030662.3:c.1180A>T , LRG_750t1:c.1180A>T	NP_109587.1:p.Thr394Ser
XM_006722799.2:c.901A>T	XP_006722862.1:p.Thr301Ser
XM_011528133.1:c.610A>T	XP_011526435.1:p.Thr204Ser
NM_030662.4:c.1180A>T MANE Select	NP_109587.1:p.Thr394Ser