Canonical Allele Identifier: CA304445692

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2081253
• ClinVar RCV Id: RCV002994141
• dbSNP Id: rs912154933
• gnomAD v2: 19-4090603-G-A
• gnomAD v4: 19-4090605-G-A
• MyVariant Identifiers: chr19:g.4090603G>A (hg19) ; chr19:g.4090605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090605G>A , CM000681.2:g.4090605G>A	GRCh38
NC_000019.9:g.4090603G>A , CM000681.1:g.4090603G>A	GRCh37
NC_000019.8:g.4041603G>A	NCBI36
NG_007996.1:g.38524C>T , LRG_750:g.38524C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1635C>T
ENST00000688002.1:n.3347C>T
ENST00000688751.1:n.332C>T
ENST00000689792.1:n.1100C>T
ENST00000262948.10:c.1196C>T MANE Select	ENSP00000262948.4:p.Ala399Val
ENST00000262948.9:c.1196C>T	ENSP00000262948.3:p.Ala399Val
ENST00000394867.8:c.905C>T	ENSP00000378336.1:p.Ala302Val
ENST00000597263.5:n.381C>T
ENST00000599021.1:c.306C>T
ENST00000600584.5:n.2645C>T
ENST00000601786.5:n.1497C>T
NM_030662.3:c.1196C>T , LRG_750t1:c.1196C>T	NP_109587.1:p.Ala399Val
XM_006722799.2:c.917C>T	XP_006722862.1:p.Ala306Val
XM_011528133.1:c.626C>T	XP_011526435.1:p.Ala209Val
NM_030662.4:c.1196C>T MANE Select	NP_109587.1:p.Ala399Val