Canonical Allele Identifier: CA403381182
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334256
ClinVar RCV Id: RCV001813671
dbSNP Id: rs2145036656
gnomAD v4: 19-4090695-A-G
MyVariant Identifiers: chr19:g.4090693A>G (hg19) chr19:g.4090695A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090695A>G , CM000681.2:g.4090695A>G GRCh38
NC_000019.9:g.4090693A>G , CM000681.1:g.4090693A>G GRCh37
NC_000019.8:g.4041693A>G NCBI36
NG_007996.1:g.38434T>C , LRG_750:g.38434T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1545T>C
ENST00000688002.1:n.3257T>C
ENST00000688751.1:n.242T>C
ENST00000689792.1:n.1010T>C
ENST00000262948.10:c.1106T>C MANE Select ENSP00000262948.4:p.Ile369Thr
ENST00000262948.9:c.1106T>C ENSP00000262948.3:p.Ile369Thr
ENST00000394867.8:c.815T>C ENSP00000378336.1:p.Ile272Thr
ENST00000597263.5:n.291T>C
ENST00000599021.1:c.216T>C
ENST00000600584.5:n.2555T>C
ENST00000601786.5:n.1407T>C
NM_030662.3:c.1106T>C , LRG_750t1:c.1106T>C NP_109587.1:p.Ile369Thr
XM_006722799.2:c.827T>C XP_006722862.1:p.Ile276Thr
XM_011528133.1:c.536T>C XP_011526435.1:p.Ile179Thr
NM_030662.4:c.1106T>C MANE Select NP_109587.1:p.Ile369Thr
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