Canonical Allele Identifier: CA403380930
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1401125796
gnomAD v2: 19-4090649-A-T
gnomAD v4: 19-4090651-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090651A>T , CM000681.2:g.4090651A>T GRCh38
NC_000019.9:g.4090649A>T , CM000681.1:g.4090649A>T GRCh37
NC_000019.8:g.4041649A>T NCBI36
NG_007996.1:g.38478T>A , LRG_750:g.38478T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1589T>A
ENST00000688002.1:n.3301T>A
ENST00000688751.1:n.286T>A
ENST00000689792.1:n.1054T>A
ENST00000262948.10:c.1150T>A MANE Select ENSP00000262948.4:p.Cys384Ser
ENST00000262948.9:c.1150T>A ENSP00000262948.3:p.Cys384Ser
ENST00000394867.8:c.859T>A ENSP00000378336.1:p.Cys287Ser
ENST00000597263.5:n.335T>A
ENST00000599021.1:c.260T>A
ENST00000600584.5:n.2599T>A
ENST00000601786.5:n.1451T>A
NM_030662.3:c.1150T>A , LRG_750t1:c.1150T>A NP_109587.1:p.Cys384Ser
XM_006722799.2:c.871T>A XP_006722862.1:p.Cys291Ser
XM_011528133.1:c.580T>A XP_011526435.1:p.Cys194Ser
NM_030662.4:c.1150T>A MANE Select NP_109587.1:p.Cys384Ser