Canonical Allele Identifier: CA403381042
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697388
ClinVar RCV Id: RCV003539526
dbSNP Id: rs2040846741
gnomAD v4: 19-4090671-A-G
MyVariant Identifiers: chr19:g.4090669A>G (hg19) chr19:g.4090671A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090671A>G , CM000681.2:g.4090671A>G GRCh38
NC_000019.9:g.4090669A>G , CM000681.1:g.4090669A>G GRCh37
NC_000019.8:g.4041669A>G NCBI36
NG_007996.1:g.38458T>C , LRG_750:g.38458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1569T>C
ENST00000688002.1:n.3281T>C
ENST00000688751.1:n.266T>C
ENST00000689792.1:n.1034T>C
ENST00000262948.10:c.1130T>C MANE Select ENSP00000262948.4:p.Val377Ala
ENST00000262948.9:c.1130T>C ENSP00000262948.3:p.Val377Ala
ENST00000394867.8:c.839T>C ENSP00000378336.1:p.Val280Ala
ENST00000597263.5:n.315T>C
ENST00000599021.1:c.240T>C
ENST00000600584.5:n.2579T>C
ENST00000601786.5:n.1431T>C
NM_030662.3:c.1130T>C , LRG_750t1:c.1130T>C NP_109587.1:p.Val377Ala
XM_006722799.2:c.851T>C XP_006722862.1:p.Val284Ala
XM_011528133.1:c.560T>C XP_011526435.1:p.Val187Ala
NM_030662.4:c.1130T>C MANE Select NP_109587.1:p.Val377Ala
Search 100 bp 5'
Search 100 bp 3'