Canonical Allele Identifier: CA304449359
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs934275813
gnomAD v3: 19-4099510-A-G
gnomAD v4: 19-4099510-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099510A>G , CM000681.2:g.4099510A>G GRCh38
NC_000019.9:g.4099508A>G , CM000681.1:g.4099508A>G GRCh37
NC_000019.8:g.4050508A>G NCBI36
NG_007996.1:g.29619T>C , LRG_750:g.29619T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1145-96T>C
ENST00000687128.1:n.1145-96T>C
ENST00000688002.1:n.904T>C
ENST00000689792.1:n.646-132T>C
ENST00000262948.10:c.706-96T>C MANE Select ENSP00000262948.4:n.706-96T>C
ENST00000262948.9:c.706-96T>C ENSP00000262948.3:n.706-96T>C
ENST00000394867.8:c.415-96T>C ENSP00000378336.1:n.415-96T>C
ENST00000593364.5:n.653-96T>C
ENST00000595715.1:n.425T>C
ENST00000597263.5:n.169+1509T>C
ENST00000599021.1:c.29+1509T>C
ENST00000600584.5:n.1170T>C
ENST00000601786.5:n.1007-96T>C
ENST00000602167.5:n.426-96T>C
NM_030662.3:c.706-96T>C , LRG_750t1:c.706-96T>C NP_109587.1:n.706-96T>C
XM_006722799.2:c.705+1509T>C XP_006722862.1:n.705+1509T>C
XM_011528133.1:c.136-96T>C XP_011526435.1:n.136-96T>C
XM_017026989.1:c.706-96T>C XP_016882478.1:n.706-96T>C
XM_017026990.1:c.705+1509T>C XP_016882479.1:n.705+1509T>C
XM_017026991.1:c.*220T>C XP_016882480.1:n.*220T>C
NM_030662.4:c.706-96T>C MANE Select NP_109587.1:n.706-96T>C