Canonical Allele Identifier: CA403381072
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090677-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090677T>C , CM000681.2:g.4090677T>C GRCh38
NC_000019.9:g.4090675T>C , CM000681.1:g.4090675T>C GRCh37
NC_000019.8:g.4041675T>C NCBI36
NG_007996.1:g.38452A>G , LRG_750:g.38452A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1563A>G
ENST00000688002.1:n.3275A>G
ENST00000688751.1:n.260A>G
ENST00000689792.1:n.1028A>G
ENST00000262948.10:c.1124A>G MANE Select ENSP00000262948.4:p.Glu375Gly
ENST00000262948.9:c.1124A>G ENSP00000262948.3:p.Glu375Gly
ENST00000394867.8:c.833A>G ENSP00000378336.1:p.Glu278Gly
ENST00000597263.5:n.309A>G
ENST00000599021.1:c.234A>G
ENST00000600584.5:n.2573A>G
ENST00000601786.5:n.1425A>G
NM_030662.3:c.1124A>G , LRG_750t1:c.1124A>G NP_109587.1:p.Glu375Gly
XM_006722799.2:c.845A>G XP_006722862.1:p.Glu282Gly
XM_011528133.1:c.554A>G XP_011526435.1:p.Glu185Gly
NM_030662.4:c.1124A>G MANE Select NP_109587.1:p.Glu375Gly