Canonical Allele Identifier: CA2584878569
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4099489-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099489A>G , CM000681.2:g.4099489A>G GRCh38
NC_000019.9:g.4099487A>G , CM000681.1:g.4099487A>G GRCh37
NC_000019.8:g.4050487A>G NCBI36
NG_007996.1:g.29640T>C , LRG_750:g.29640T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1145-75T>C
ENST00000687128.1:n.1145-75T>C
ENST00000688002.1:n.925T>C
ENST00000689792.1:n.646-111T>C
ENST00000262948.10:c.706-75T>C MANE Select ENSP00000262948.4:n.706-75T>C
ENST00000262948.9:c.706-75T>C ENSP00000262948.3:n.706-75T>C
ENST00000394867.8:c.415-75T>C ENSP00000378336.1:n.415-75T>C
ENST00000593364.5:n.653-75T>C
ENST00000595715.1:n.446T>C
ENST00000597263.5:n.169+1530T>C
ENST00000599021.1:c.29+1530T>C
ENST00000600584.5:n.1191T>C
ENST00000601786.5:n.1007-75T>C
ENST00000602167.5:n.426-75T>C
NM_030662.3:c.706-75T>C , LRG_750t1:c.706-75T>C NP_109587.1:n.706-75T>C
XM_006722799.2:c.705+1530T>C XP_006722862.1:n.705+1530T>C
XM_011528133.1:c.136-75T>C XP_011526435.1:n.136-75T>C
XM_017026989.1:c.706-75T>C XP_016882478.1:n.706-75T>C
XM_017026990.1:c.705+1530T>C XP_016882479.1:n.705+1530T>C
XM_017026991.1:c.*241T>C XP_016882480.1:n.*241T>C
NM_030662.4:c.706-75T>C MANE Select NP_109587.1:n.706-75T>C