Canonical Allele Identifier: CA291999
Community Standard Title: NM_030662.4(MAP2K2):c.825G>A (p.Leu275=)
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099295C>T , CM000681.2:g.4099295C>T GRCh38
NC_000019.9:g.4099293C>T , CM000681.1:g.4099293C>T GRCh37
NC_000019.8:g.4050293C>T NCBI36
NG_007996.1:g.29834G>A , LRG_750:g.29834G>A

Transcript Alleles

HGVS Amino-acid Change
NM_030662.4:c.825G>A MANE Select NP_109587.1:p.Leu275=
ENST00000262948.10:c.825G>A MANE Select ENSP00000262948.4:p.Leu275=
NM_030662.3:c.825G>A , LRG_750t1:c.825G>A NP_109587.1:p.Leu275=
ENST00000262948.9:c.825G>A ENSP00000262948.3:p.Leu275=
ENST00000394867.8:c.534G>A ENSP00000378336.1:p.Leu178=
ENST00000394867.9:n.1264G>A
ENST00000593364.5:n.772G>A
ENST00000595715.1:n.640G>A
ENST00000597263.5:n.169+1724G>A
ENST00000599021.1:c.29+1724G>A
ENST00000600584.5:n.1385G>A
ENST00000601786.5:n.1126G>A
ENST00000687128.1:n.1264G>A
ENST00000688002.1:n.1119G>A
ENST00000689792.1:n.729G>A
XM_006722799.2:c.705+1724G>A XP_006722862.1:n.705+1724G>A
XM_011528133.1:c.255G>A XP_011526435.1:p.Leu85=
XM_017026989.1:c.825G>A XP_016882478.1:p.Leu275=
XM_017026990.1:c.705+1724G>A XP_016882479.1:n.705+1724G>A