Canonical Allele Identifier: CA304449317

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1474606
• ClinVar RCV Id: RCV002007666
• dbSNP Id: rs1038040308
• gnomAD v4: 19-4099345-C-G
• MyVariant Identifiers: chr19:g.4099343C>G (hg19) ; chr19:g.4099345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099345C>G , CM000681.2:g.4099345C>G	GRCh38
NC_000019.9:g.4099343C>G , CM000681.1:g.4099343C>G	GRCh37
NC_000019.8:g.4050343C>G	NCBI36
NG_007996.1:g.29784G>C , LRG_750:g.29784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1214G>C
ENST00000687128.1:n.1214G>C
ENST00000688002.1:n.1069G>C
ENST00000689792.1:n.679G>C
ENST00000262948.10:c.775G>C MANE Select	ENSP00000262948.4:p.Glu259Gln
ENST00000262948.9:c.775G>C	ENSP00000262948.3:p.Glu259Gln
ENST00000394867.8:c.484G>C	ENSP00000378336.1:p.Glu162Gln
ENST00000593364.5:n.722G>C
ENST00000595715.1:n.590G>C
ENST00000597263.5:n.169+1674G>C
ENST00000599021.1:c.29+1674G>C
ENST00000600584.5:n.1335G>C
ENST00000601786.5:n.1076G>C
NM_030662.3:c.775G>C , LRG_750t1:c.775G>C	NP_109587.1:p.Glu259Gln
XM_006722799.2:c.705+1674G>C	XP_006722862.1:n.705+1674G>C
XM_011528133.1:c.205G>C	XP_011526435.1:p.Glu69Gln
XM_017026989.1:c.775G>C	XP_016882478.1:p.Glu259Gln
XM_017026990.1:c.705+1674G>C	XP_016882479.1:n.705+1674G>C
NM_030662.4:c.775G>C MANE Select	NP_109587.1:p.Glu259Gln