Canonical Allele Identifier: CA180895
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40843
ClinVar RCV Id: RCV000154509 RCV000200611 RCV000680296 RCV000824952 RCV001334284
dbSNP Id: rs144383241
ExAC: 19:4090637 G / A
gnomAD v2: 19-4090637-G-A
gnomAD v3: 19-4090639-G-A
gnomAD v4: 19-4090639-G-A
MyVariant Identifiers: chr19:g.4090637G>A (hg19) chr19:g.4090639G>A (hg38)
ERepo: CA180895/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090639G>A , CM000681.2:g.4090639G>A GRCh38
NC_000019.9:g.4090637G>A , CM000681.1:g.4090637G>A GRCh37
NC_000019.8:g.4041637G>A NCBI36
NG_007996.1:g.38490C>T , LRG_750:g.38490C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1601C>T
ENST00000688002.1:n.3313C>T
ENST00000688751.1:n.298C>T
ENST00000689792.1:n.1066C>T
ENST00000262948.10:c.1162C>T MANE Select ENSP00000262948.4:p.Arg388Trp
ENST00000262948.9:c.1162C>T ENSP00000262948.3:p.Arg388Trp
ENST00000394867.8:c.871C>T ENSP00000378336.1:p.Arg291Trp
ENST00000597263.5:n.347C>T
ENST00000599021.1:c.272C>T
ENST00000600584.5:n.2611C>T
ENST00000601786.5:n.1463C>T
NM_030662.3:c.1162C>T , LRG_750t1:c.1162C>T NP_109587.1:p.Arg388Trp
XM_006722799.2:c.883C>T XP_006722862.1:p.Arg295Trp
XM_011528133.1:c.592C>T XP_011526435.1:p.Arg198Trp
NM_030662.4:c.1162C>T MANE Select NP_109587.1:p.Arg388Trp
Search 100 bp 5'
Search 100 bp 3'