Canonical Allele Identifier: CA403381027
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1304831843
gnomAD v2: 19-4090666-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090668T>A , CM000681.2:g.4090668T>A GRCh38
NC_000019.9:g.4090666T>A , CM000681.1:g.4090666T>A GRCh37
NC_000019.8:g.4041666T>A NCBI36
NG_007996.1:g.38461A>T , LRG_750:g.38461A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1572A>T
ENST00000688002.1:n.3284A>T
ENST00000688751.1:n.269A>T
ENST00000689792.1:n.1037A>T
ENST00000262948.10:c.1133A>T MANE Select ENSP00000262948.4:p.Asp378Val
ENST00000262948.9:c.1133A>T ENSP00000262948.3:p.Asp378Val
ENST00000394867.8:c.842A>T ENSP00000378336.1:p.Asp281Val
ENST00000597263.5:n.318A>T
ENST00000599021.1:c.243A>T
ENST00000600584.5:n.2582A>T
ENST00000601786.5:n.1434A>T
NM_030662.3:c.1133A>T , LRG_750t1:c.1133A>T NP_109587.1:p.Asp378Val
XM_006722799.2:c.854A>T XP_006722862.1:p.Asp285Val
XM_011528133.1:c.563A>T XP_011526435.1:p.Asp188Val
NM_030662.4:c.1133A>T MANE Select NP_109587.1:p.Asp378Val