Canonical Allele Identifier: CA403380918
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308219
ClinVar RCV Id: RCV001774130 RCV003539403
dbSNP Id: rs2040846395
gnomAD v4: 19-4090650-C-T
MyVariant Identifiers: chr19:g.4090648C>T (hg19) chr19:g.4090650C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090650C>T , CM000681.2:g.4090650C>T GRCh38
NC_000019.9:g.4090648C>T , CM000681.1:g.4090648C>T GRCh37
NC_000019.8:g.4041648C>T NCBI36
NG_007996.1:g.38479G>A , LRG_750:g.38479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1590G>A
ENST00000688002.1:n.3302G>A
ENST00000688751.1:n.287G>A
ENST00000689792.1:n.1055G>A
ENST00000262948.10:c.1151G>A MANE Select ENSP00000262948.4:p.Cys384Tyr
ENST00000262948.9:c.1151G>A ENSP00000262948.3:p.Cys384Tyr
ENST00000394867.8:c.860G>A ENSP00000378336.1:p.Cys287Tyr
ENST00000597263.5:n.336G>A
ENST00000599021.1:c.261G>A
ENST00000600584.5:n.2600G>A
ENST00000601786.5:n.1452G>A
NM_030662.3:c.1151G>A , LRG_750t1:c.1151G>A NP_109587.1:p.Cys384Tyr
XM_006722799.2:c.872G>A XP_006722862.1:p.Cys291Tyr
XM_011528133.1:c.581G>A XP_011526435.1:p.Cys194Tyr
NM_030662.4:c.1151G>A MANE Select NP_109587.1:p.Cys384Tyr
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