Canonical Allele Identifier: CA403381067
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090676-T-G
MyVariant Identifiers: chr19:g.4090674T>G (hg19) chr19:g.4090676T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090676T>G , CM000681.2:g.4090676T>G GRCh38
NC_000019.9:g.4090674T>G , CM000681.1:g.4090674T>G GRCh37
NC_000019.8:g.4041674T>G NCBI36
NG_007996.1:g.38453A>C , LRG_750:g.38453A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1564A>C
ENST00000688002.1:n.3276A>C
ENST00000688751.1:n.261A>C
ENST00000689792.1:n.1029A>C
ENST00000262948.10:c.1125A>C MANE Select ENSP00000262948.4:p.Glu375Asp
ENST00000262948.9:c.1125A>C ENSP00000262948.3:p.Glu375Asp
ENST00000394867.8:c.834A>C ENSP00000378336.1:p.Glu278Asp
ENST00000597263.5:n.310A>C
ENST00000599021.1:c.235A>C
ENST00000600584.5:n.2574A>C
ENST00000601786.5:n.1426A>C
NM_030662.3:c.1125A>C , LRG_750t1:c.1125A>C NP_109587.1:p.Glu375Asp
XM_006722799.2:c.846A>C XP_006722862.1:p.Glu282Asp
XM_011528133.1:c.555A>C XP_011526435.1:p.Glu185Asp
NM_030662.4:c.1125A>C MANE Select NP_109587.1:p.Glu375Asp
Search 100 bp 5'
Search 100 bp 3'