Canonical Allele Identifier: CA403381092
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090683-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090683T>A , CM000681.2:g.4090683T>A GRCh38
NC_000019.9:g.4090681T>A , CM000681.1:g.4090681T>A GRCh37
NC_000019.8:g.4041681T>A NCBI36
NG_007996.1:g.38446A>T , LRG_750:g.38446A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1557A>T
ENST00000688002.1:n.3269A>T
ENST00000688751.1:n.254A>T
ENST00000689792.1:n.1022A>T
ENST00000262948.10:c.1118A>T MANE Select ENSP00000262948.4:p.Glu373Val
ENST00000262948.9:c.1118A>T ENSP00000262948.3:p.Glu373Val
ENST00000394867.8:c.827A>T ENSP00000378336.1:p.Glu276Val
ENST00000597263.5:n.303A>T
ENST00000599021.1:c.228A>T
ENST00000600584.5:n.2567A>T
ENST00000601786.5:n.1419A>T
NM_030662.3:c.1118A>T , LRG_750t1:c.1118A>T NP_109587.1:p.Glu373Val
XM_006722799.2:c.839A>T XP_006722862.1:p.Glu280Val
XM_011528133.1:c.548A>T XP_011526435.1:p.Glu183Val
NM_030662.4:c.1118A>T MANE Select NP_109587.1:p.Glu373Val