Canonical Allele Identifier: CA9090835
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2140580
ClinVar RCV Id: RCV003073730
dbSNP Id: rs763860544
gnomAD v2: 19-4099360-A-G
gnomAD v3: 19-4099362-A-G
gnomAD v4: 19-4099362-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099362A>G , CM000681.2:g.4099362A>G GRCh38
NC_000019.9:g.4099360A>G , CM000681.1:g.4099360A>G GRCh37
NC_000019.8:g.4050360A>G NCBI36
NG_007996.1:g.29767T>C , LRG_750:g.29767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1197T>C
ENST00000687128.1:n.1197T>C
ENST00000688002.1:n.1052T>C
ENST00000689792.1:n.662T>C
ENST00000262948.10:c.758T>C MANE Select ENSP00000262948.4:p.Met253Thr
ENST00000262948.9:c.758T>C ENSP00000262948.3:p.Met253Thr
ENST00000394867.8:c.467T>C ENSP00000378336.1:p.Met156Thr
ENST00000593364.5:n.705T>C
ENST00000595715.1:n.573T>C
ENST00000597263.5:n.169+1657T>C
ENST00000599021.1:c.29+1657T>C
ENST00000600584.5:n.1318T>C
ENST00000601786.5:n.1059T>C
NM_030662.3:c.758T>C , LRG_750t1:c.758T>C NP_109587.1:p.Met253Thr
XM_006722799.2:c.705+1657T>C XP_006722862.1:n.705+1657T>C
XM_011528133.1:c.188T>C XP_011526435.1:p.Met63Thr
XM_017026989.1:c.758T>C XP_016882478.1:p.Met253Thr
XM_017026990.1:c.705+1657T>C XP_016882479.1:n.705+1657T>C
NM_030662.4:c.758T>C MANE Select NP_109587.1:p.Met253Thr