Canonical Allele Identifier: CA304445706
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2727134
ClinVar RCV Id: RCV003540068
dbSNP Id: rs865940003
MyVariant Identifiers: chr19:g.4090641G>A (hg19) chr19:g.4090643G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090643G>A , CM000681.2:g.4090643G>A GRCh38
NC_000019.9:g.4090641G>A , CM000681.1:g.4090641G>A GRCh37
NC_000019.8:g.4041641G>A NCBI36
NG_007996.1:g.38486C>T , LRG_750:g.38486C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1597C>T
ENST00000688002.1:n.3309C>T
ENST00000688751.1:n.294C>T
ENST00000689792.1:n.1062C>T
ENST00000262948.10:c.1158C>T MANE Select ENSP00000262948.4:p.Thr386=
ENST00000262948.9:c.1158C>T ENSP00000262948.3:p.Thr386=
ENST00000394867.8:c.867C>T ENSP00000378336.1:p.Thr289=
ENST00000597263.5:n.343C>T
ENST00000599021.1:c.268C>T
ENST00000600584.5:n.2607C>T
ENST00000601786.5:n.1459C>T
NM_030662.3:c.1158C>T , LRG_750t1:c.1158C>T NP_109587.1:p.Thr386=
XM_006722799.2:c.879C>T XP_006722862.1:p.Thr293=
XM_011528133.1:c.588C>T XP_011526435.1:p.Thr196=
NM_030662.4:c.1158C>T MANE Select NP_109587.1:p.Thr386=
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