Canonical Allele Identifier: CA992821410
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1568252583
gnomAD v3: 19-4099472-G-A
gnomAD v4: 19-4099472-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099472G>A , CM000681.2:g.4099472G>A GRCh38
NC_000019.9:g.4099470G>A , CM000681.1:g.4099470G>A GRCh37
NC_000019.8:g.4050470G>A NCBI36
NG_007996.1:g.29657C>T , LRG_750:g.29657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1145-58C>T
ENST00000687128.1:n.1145-58C>T
ENST00000688002.1:n.942C>T
ENST00000689792.1:n.646-94C>T
ENST00000262948.10:c.706-58C>T MANE Select ENSP00000262948.4:n.706-58C>T
ENST00000262948.9:c.706-58C>T ENSP00000262948.3:n.706-58C>T
ENST00000394867.8:c.415-58C>T ENSP00000378336.1:n.415-58C>T
ENST00000593364.5:n.653-58C>T
ENST00000595715.1:n.463C>T
ENST00000597263.5:n.169+1547C>T
ENST00000599021.1:c.29+1547C>T
ENST00000600584.5:n.1208C>T
ENST00000601786.5:n.1007-58C>T
ENST00000602167.5:n.426-58C>T
NM_030662.3:c.706-58C>T , LRG_750t1:c.706-58C>T NP_109587.1:n.706-58C>T
XM_006722799.2:c.705+1547C>T XP_006722862.1:n.705+1547C>T
XM_011528133.1:c.136-58C>T XP_011526435.1:n.136-58C>T
XM_017026989.1:c.706-58C>T XP_016882478.1:n.706-58C>T
XM_017026990.1:c.705+1547C>T XP_016882479.1:n.705+1547C>T
XM_017026991.1:c.*258C>T XP_016882480.1:n.*258C>T
NM_030662.4:c.706-58C>T MANE Select NP_109587.1:n.706-58C>T