Canonical Allele Identifier: CA9090689
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005324
ClinVar RCV Id: RCV001302177
dbSNP Id: rs749615795
ExAC: 19:4090636 C / T
gnomAD v2: 19-4090636-C-T
gnomAD v3: 19-4090638-C-T
gnomAD v4: 19-4090638-C-T
COSMIC: COSM1578993 COSM1578994
MyVariant Identifiers: chr19:g.4090636C>T (hg19) chr19:g.4090638C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090638C>T , CM000681.2:g.4090638C>T GRCh38
NC_000019.9:g.4090636C>T , CM000681.1:g.4090636C>T GRCh37
NC_000019.8:g.4041636C>T NCBI36
NG_007996.1:g.38491G>A , LRG_750:g.38491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1602G>A
ENST00000688002.1:n.3314G>A
ENST00000688751.1:n.299G>A
ENST00000689792.1:n.1067G>A
ENST00000262948.10:c.1163G>A MANE Select ENSP00000262948.4:p.Arg388Gln
ENST00000262948.9:c.1163G>A ENSP00000262948.3:p.Arg388Gln
ENST00000394867.8:c.872G>A ENSP00000378336.1:p.Arg291Gln
ENST00000597263.5:n.348G>A
ENST00000599021.1:c.273G>A
ENST00000600584.5:n.2612G>A
ENST00000601786.5:n.1464G>A
NM_030662.3:c.1163G>A , LRG_750t1:c.1163G>A NP_109587.1:p.Arg388Gln
XM_006722799.2:c.884G>A XP_006722862.1:p.Arg295Gln
XM_011528133.1:c.593G>A XP_011526435.1:p.Arg198Gln
NM_030662.4:c.1163G>A MANE Select NP_109587.1:p.Arg388Gln
Search 100 bp 5'
Search 100 bp 3'