Canonical Allele Identifier: CA296157
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40842
ClinVar RCV Id: RCV000158034 RCV000546588 RCV000781515
dbSNP Id: rs730880514
ExAC: 19:4090687 C / T
gnomAD v2: 19-4090687-C-T
gnomAD v3: 19-4090689-C-T
gnomAD v4: 19-4090689-C-T
MyVariant Identifiers: chr19:g.4090687C>T (hg19) chr19:g.4090689C>T (hg38)
ERepo: CA296157/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090689C>T , CM000681.2:g.4090689C>T GRCh38
NC_000019.9:g.4090687C>T , CM000681.1:g.4090687C>T GRCh37
NC_000019.8:g.4041687C>T NCBI36
NG_007996.1:g.38440G>A , LRG_750:g.38440G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1551G>A
ENST00000688002.1:n.3263G>A
ENST00000688751.1:n.248G>A
ENST00000689792.1:n.1016G>A
ENST00000262948.10:c.1112G>A MANE Select ENSP00000262948.4:p.Arg371Gln
ENST00000262948.9:c.1112G>A ENSP00000262948.3:p.Arg371Gln
ENST00000394867.8:c.821G>A ENSP00000378336.1:p.Arg274Gln
ENST00000597263.5:n.297G>A
ENST00000599021.1:c.222G>A
ENST00000600584.5:n.2561G>A
ENST00000601786.5:n.1413G>A
NM_030662.3:c.1112G>A , LRG_750t1:c.1112G>A NP_109587.1:p.Arg371Gln
XM_006722799.2:c.833G>A XP_006722862.1:p.Arg278Gln
XM_011528133.1:c.542G>A XP_011526435.1:p.Arg181Gln
NM_030662.4:c.1112G>A MANE Select NP_109587.1:p.Arg371Gln
Search 100 bp 5'
Search 100 bp 3'