Canonical Allele Identifier: CA9091071
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 958648
ClinVar RCV Id: RCV001231849
dbSNP Id: rs142271248
ExAC: 19:4117481 G / A
gnomAD v2: 19-4117481-G-A
gnomAD v3: 19-4117483-G-A
gnomAD v4: 19-4117483-G-A
MyVariant Identifiers: chr19:g.4117481G>A (hg19) chr19:g.4117483G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117483G>A , CM000681.2:g.4117483G>A GRCh38
NC_000019.9:g.4117481G>A , CM000681.1:g.4117481G>A GRCh37
NC_000019.8:g.4068481G>A NCBI36
NG_007996.1:g.11646C>T , LRG_750:g.11646C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.678C>T
ENST00000687128.1:n.678C>T
ENST00000262948.10:c.239C>T MANE Select ENSP00000262948.4:p.Ala80Val
ENST00000262948.9:c.239C>T ENSP00000262948.3:p.Ala80Val
ENST00000394867.8:c.-53C>T ENSP00000378336.1:n.-53C>T
ENST00000599345.1:n.436C>T
NM_030662.3:c.239C>T , LRG_750t1:c.239C>T NP_109587.1:p.Ala80Val
XM_006722799.2:c.239C>T XP_006722862.1:p.Ala80Val
XM_017026989.1:c.239C>T XP_016882478.1:p.Ala80Val
XM_017026990.1:c.239C>T XP_016882479.1:p.Ala80Val
XM_017026991.1:c.239C>T XP_016882480.1:p.Ala80Val
NM_030662.4:c.239C>T MANE Select NP_109587.1:p.Ala80Val
Search 100 bp 5'
Search 100 bp 3'