Canonical Allele Identifier: CA403381116
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1973996
ClinVar RCV Id: RCV002741137
MyVariant Identifiers: chr19:g.4090682C>G (hg19) chr19:g.4090684C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090684C>G , CM000681.2:g.4090684C>G GRCh38
NC_000019.9:g.4090682C>G , CM000681.1:g.4090682C>G GRCh37
NC_000019.8:g.4041682C>G NCBI36
NG_007996.1:g.38445G>C , LRG_750:g.38445G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1556G>C
ENST00000688002.1:n.3268G>C
ENST00000688751.1:n.253G>C
ENST00000689792.1:n.1021G>C
ENST00000262948.10:c.1117G>C MANE Select ENSP00000262948.4:p.Glu373Gln
ENST00000262948.9:c.1117G>C ENSP00000262948.3:p.Glu373Gln
ENST00000394867.8:c.826G>C ENSP00000378336.1:p.Glu276Gln
ENST00000597263.5:n.302G>C
ENST00000599021.1:c.227G>C
ENST00000600584.5:n.2566G>C
ENST00000601786.5:n.1418G>C
NM_030662.3:c.1117G>C , LRG_750t1:c.1117G>C NP_109587.1:p.Glu373Gln
XM_006722799.2:c.838G>C XP_006722862.1:p.Glu280Gln
XM_011528133.1:c.547G>C XP_011526435.1:p.Glu183Gln
NM_030662.4:c.1117G>C MANE Select NP_109587.1:p.Glu373Gln
Search 100 bp 5'
Search 100 bp 3'