Canonical Allele Identifier: CA14632111
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1220587
ClinVar RCV Id: RCV001595149
dbSNP Id: rs6630
gnomAD v2: 19-4090422-G-T
gnomAD v3: 19-4090424-G-T
gnomAD v4: 19-4090424-G-T
MyVariant Identifiers: chr19:g.4090422G>T (hg19) chr19:g.4090424G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090424G>T , CM000681.2:g.4090424G>T GRCh38
NC_000019.9:g.4090422G>T , CM000681.1:g.4090422G>T GRCh37
NC_000019.8:g.4041422G>T NCBI36
NG_007996.1:g.38705C>A , LRG_750:g.38705C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1816C>A
ENST00000688751.1:n.513C>A
ENST00000689792.1:n.1281C>A
ENST00000262948.10:c.*174C>A MANE Select ENSP00000262948.4:n.*174C>A
ENST00000262948.9:c.*174C>A ENSP00000262948.3:n.*174C>A
ENST00000394867.8:c.*174C>A ENSP00000378336.1:n.*174C>A
ENST00000600584.5:n.2826C>A
ENST00000601786.5:n.1678C>A
NM_030662.3:c.*174C>A , LRG_750t1:c.*174C>A NP_109587.1:n.*174C>A
XM_006722799.2:c.*174C>A XP_006722862.1:n.*174C>A
XM_011528133.1:c.*174C>A XP_011526435.1:n.*174C>A
NM_030662.4:c.*174C>A MANE Select NP_109587.1:n.*174C>A
Search 100 bp 5'
Search 100 bp 3'