Canonical Allele Identifier: CA2584878282
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099120-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099120A>G , CM000681.2:g.4099120A>G GRCh38
NC_000019.9:g.4099118A>G , CM000681.1:g.4099118A>G GRCh37
NC_000019.8:g.4050118A>G NCBI36
NG_007996.1:g.30009T>C , LRG_750:g.30009T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1358+81T>C
ENST00000687128.1:n.1439T>C
ENST00000688002.1:n.1294T>C
ENST00000689792.1:n.823+81T>C
ENST00000262948.10:c.919+81T>C MANE Select ENSP00000262948.4:n.919+81T>C
ENST00000262948.9:c.919+81T>C ENSP00000262948.3:n.919+81T>C
ENST00000394867.8:c.628+81T>C ENSP00000378336.1:n.628+81T>C
ENST00000595715.1:n.734+81T>C
ENST00000597263.5:n.169+1899T>C
ENST00000599021.1:c.30-1777T>C
ENST00000600584.5:n.1479+81T>C
ENST00000601786.5:n.1220+81T>C
NM_030662.3:c.919+81T>C , LRG_750t1:c.919+81T>C NP_109587.1:n.919+81T>C
XM_006722799.2:c.705+1899T>C XP_006722862.1:n.705+1899T>C
XM_011528133.1:c.349+81T>C XP_011526435.1:n.349+81T>C
XM_017026989.1:c.919+81T>C XP_016882478.1:n.919+81T>C
XM_017026990.1:c.705+1899T>C XP_016882479.1:n.705+1899T>C
NM_030662.4:c.919+81T>C MANE Select NP_109587.1:n.919+81T>C