Canonical Allele Identifier: CA504984348
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1599277985
gnomAD v4: 19-4090682-C-T
MyVariant Identifiers: chr19:g.4090680C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090682C>T , CM000681.2:g.4090682C>T GRCh38
NC_000019.9:g.4090680C>T , CM000681.1:g.4090680C>T GRCh37
NC_000019.8:g.4041680C>T NCBI36
NG_007996.1:g.38447G>A , LRG_750:g.38447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1558G>A
ENST00000688002.1:n.3270G>A
ENST00000688751.1:n.255G>A
ENST00000689792.1:n.1023G>A
ENST00000262948.10:c.1119G>A MANE Select ENSP00000262948.4:p.Glu373=
ENST00000262948.9:c.1119G>A ENSP00000262948.3:p.Glu373=
ENST00000394867.8:c.828G>A ENSP00000378336.1:p.Glu276=
ENST00000597263.5:n.304G>A
ENST00000599021.1:c.229G>A
ENST00000600584.5:n.2568G>A
ENST00000601786.5:n.1420G>A
NM_030662.3:c.1119G>A , LRG_750t1:c.1119G>A NP_109587.1:p.Glu373=
XM_006722799.2:c.840G>A XP_006722862.1:p.Glu280=
XM_011528133.1:c.549G>A XP_011526435.1:p.Glu183=
NM_030662.4:c.1119G>A MANE Select NP_109587.1:p.Glu373=
Search 100 bp 5'
Search 100 bp 3'