Canonical Allele Identifier: CA2584878436
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1248982425
gnomAD v4: 19-4099192-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099192A>G , CM000681.2:g.4099192A>G GRCh38
NC_000019.9:g.4099190A>G , CM000681.1:g.4099190A>G GRCh37
NC_000019.8:g.4050190A>G NCBI36
NG_007996.1:g.29937T>C , LRG_750:g.29937T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1358+9T>C
ENST00000687128.1:n.1367T>C
ENST00000688002.1:n.1222T>C
ENST00000689792.1:n.823+9T>C
ENST00000262948.10:c.919+9T>C MANE Select ENSP00000262948.4:n.919+9T>C
ENST00000262948.9:c.919+9T>C ENSP00000262948.3:n.919+9T>C
ENST00000394867.8:c.628+9T>C ENSP00000378336.1:n.628+9T>C
ENST00000595715.1:n.734+9T>C
ENST00000597263.5:n.169+1827T>C
ENST00000599021.1:c.29+1827T>C
ENST00000600584.5:n.1479+9T>C
ENST00000601786.5:n.1220+9T>C
NM_030662.3:c.919+9T>C , LRG_750t1:c.919+9T>C NP_109587.1:n.919+9T>C
XM_006722799.2:c.705+1827T>C XP_006722862.1:n.705+1827T>C
XM_011528133.1:c.349+9T>C XP_011526435.1:n.349+9T>C
XM_017026989.1:c.919+9T>C XP_016882478.1:n.919+9T>C
XM_017026990.1:c.705+1827T>C XP_016882479.1:n.705+1827T>C
NM_030662.4:c.919+9T>C MANE Select NP_109587.1:n.919+9T>C