Canonical Allele Identifier: CA119417
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8274
ClinVar RCV Id: RCV000008763 RCV000043675 RCV000158022 RCV000521479 RCV001813182 RCV003390660 RCV003450621
dbSNP Id: rs121434499
MyVariant Identifiers: chr19:g.4110557A>G (hg19) chr19:g.4110559A>G (hg38)
ERepo: CA119417/MONDO:0021060/004
PubMed: PMID:18042262
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110559A>G , CM000681.2:g.4110559A>G GRCh38
NC_000019.9:g.4110557A>G , CM000681.1:g.4110557A>G GRCh37
NC_000019.8:g.4061557A>G NCBI36
NG_007996.1:g.18570T>C , LRG_750:g.18570T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.839T>C
ENST00000687128.1:n.839T>C
ENST00000262948.10:c.400T>C MANE Select ENSP00000262948.4:p.Tyr134His
ENST00000262948.9:c.400T>C ENSP00000262948.3:p.Tyr134His
ENST00000394867.8:c.109T>C ENSP00000378336.1:p.Tyr37His
ENST00000599345.1:n.597T>C
NM_030662.3:c.400T>C , LRG_750t1:c.400T>C NP_109587.1:p.Tyr134His
XM_006722799.2:c.400T>C XP_006722862.1:p.Tyr134His
XM_017026989.1:c.400T>C XP_016882478.1:p.Tyr134His
XM_017026990.1:c.400T>C XP_016882479.1:p.Tyr134His
XM_017026991.1:c.400T>C XP_016882480.1:p.Tyr134His
NM_030662.4:c.400T>C MANE Select NP_109587.1:p.Tyr134His
Search 100 bp 5'
Search 100 bp 3'