Canonical Allele Identifier: CA296139
Gene: MAP2K2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 40824
dbSNP Id: rs539555837

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099302T>C , CM000681.2:g.4099302T>C GRCh38
NC_000019.9:g.4099300T>C , CM000681.1:g.4099300T>C GRCh37
NC_000019.8:g.4050300T>C NCBI36
NG_007996.1:g.29827A>G , LRG_750:g.29827A>G

Transcript Alleles

HGVS Amino-acid change
NM_030662.3:c.818A>G , LRG_750t1:c.818A>G NP_109587.1:p.Lys273Arg
XM_006722799.2:c.705+1717A>G XP_006722862.1:p.=
XM_011528133.1:c.248A>G XP_011526435.1:p.Lys83Arg
XM_017026989.1:c.818A>G XP_016882478.1:p.Lys273Arg
XM_017026990.1:c.705+1717A>G XP_016882479.1:p.=
ENST00000262948.9:c.818A>G ENSP00000262948.3:p.Lys273Arg
ENST00000394867.8:c.527A>G ENSP00000378336.1:p.Lys176Arg
ENST00000593364.5:n.765A>G
ENST00000595715.1:n.633A>G
ENST00000597263.5:n.169+1717A>G
ENST00000599021.1:n.29+1717A>G
ENST00000600584.5:n.1378A>G
ENST00000601786.5:n.1119A>G