Canonical Allele Identifier: CA403381062
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090675-C-G
MyVariant Identifiers: chr19:g.4090673C>G (hg19) chr19:g.4090675C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090675C>G , CM000681.2:g.4090675C>G GRCh38
NC_000019.9:g.4090673C>G , CM000681.1:g.4090673C>G GRCh37
NC_000019.8:g.4041673C>G NCBI36
NG_007996.1:g.38454G>C , LRG_750:g.38454G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1565G>C
ENST00000688002.1:n.3277G>C
ENST00000688751.1:n.262G>C
ENST00000689792.1:n.1030G>C
ENST00000262948.10:c.1126G>C MANE Select ENSP00000262948.4:p.Glu376Gln
ENST00000262948.9:c.1126G>C ENSP00000262948.3:p.Glu376Gln
ENST00000394867.8:c.835G>C ENSP00000378336.1:p.Glu279Gln
ENST00000597263.5:n.311G>C
ENST00000599021.1:c.236G>C
ENST00000600584.5:n.2575G>C
ENST00000601786.5:n.1427G>C
NM_030662.3:c.1126G>C , LRG_750t1:c.1126G>C NP_109587.1:p.Glu376Gln
XM_006722799.2:c.847G>C XP_006722862.1:p.Glu283Gln
XM_011528133.1:c.556G>C XP_011526435.1:p.Glu186Gln
NM_030662.4:c.1126G>C MANE Select NP_109587.1:p.Glu376Gln
Search 100 bp 5'
Search 100 bp 3'