Canonical Allele Identifier: CA2584877084
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094628-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094628T>A , CM000681.2:g.4094628T>A GRCh38
NC_000019.9:g.4094626T>A , CM000681.1:g.4094626T>A GRCh37
NC_000019.8:g.4045626T>A NCBI36
NG_007996.1:g.34501A>T , LRG_750:g.34501A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-130A>T
ENST00000688002.1:n.3198-130A>T
ENST00000688751.1:n.183-130A>T
ENST00000689792.1:n.951-130A>T
ENST00000262948.10:c.1047-130A>T MANE Select ENSP00000262948.4:n.1047-130A>T
ENST00000262948.9:c.1047-130A>T ENSP00000262948.3:n.1047-130A>T
ENST00000394867.8:c.756-130A>T ENSP00000378336.1:n.756-130A>T
ENST00000597263.5:n.232-130A>T
ENST00000599021.1:c.157-130A>T
ENST00000600584.5:n.2366A>T
ENST00000601786.5:n.1348-130A>T
NM_030662.3:c.1047-130A>T , LRG_750t1:c.1047-130A>T NP_109587.1:n.1047-130A>T
XM_006722799.2:c.768-130A>T XP_006722862.1:n.768-130A>T
XM_011528133.1:c.477-130A>T XP_011526435.1:n.477-130A>T
XM_017026989.1:c.1465A>T XP_016882478.1:p.Thr489Ser
XM_017026990.1:c.1186A>T XP_016882479.1:p.Thr396Ser
NM_030662.4:c.1047-130A>T MANE Select NP_109587.1:n.1047-130A>T