Canonical Allele Identifier: CA403381070
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090677-T-A
MyVariant Identifiers: chr19:g.4090675T>A (hg19) chr19:g.4090677T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090677T>A , CM000681.2:g.4090677T>A GRCh38
NC_000019.9:g.4090675T>A , CM000681.1:g.4090675T>A GRCh37
NC_000019.8:g.4041675T>A NCBI36
NG_007996.1:g.38452A>T , LRG_750:g.38452A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1563A>T
ENST00000688002.1:n.3275A>T
ENST00000688751.1:n.260A>T
ENST00000689792.1:n.1028A>T
ENST00000262948.10:c.1124A>T MANE Select ENSP00000262948.4:p.Glu375Val
ENST00000262948.9:c.1124A>T ENSP00000262948.3:p.Glu375Val
ENST00000394867.8:c.833A>T ENSP00000378336.1:p.Glu278Val
ENST00000597263.5:n.309A>T
ENST00000599021.1:c.234A>T
ENST00000600584.5:n.2573A>T
ENST00000601786.5:n.1425A>T
NM_030662.3:c.1124A>T , LRG_750t1:c.1124A>T NP_109587.1:p.Glu375Val
XM_006722799.2:c.845A>T XP_006722862.1:p.Glu282Val
XM_011528133.1:c.554A>T XP_011526435.1:p.Glu185Val
NM_030662.4:c.1124A>T MANE Select NP_109587.1:p.Glu375Val
Search 100 bp 5'
Search 100 bp 3'