Canonical Allele Identifier: CA180890

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 177868
• ClinVar RCV Id: RCV000154507 ; RCV000208747 ; RCV000412815 ; RCV000844676 ; RCV003453160
• dbSNP Id: rs727504370
• gnomAD v4: 19-4110558-T-C
• COSMIC: COSM1644764 ; COSM1644765
• MyVariant Identifiers: chr19:g.4110556T>C (hg19) ; chr19:g.4110558T>C (hg38)
• PubMed: PMID:17981815 ; PMID:18039235 ; PMID:18413255 ; PMID:20301365
• ERepo: CA180890/MONDO:0015280/004

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110558T>C , CM000681.2:g.4110558T>C	GRCh38
NC_000019.9:g.4110556T>C , CM000681.1:g.4110556T>C	GRCh37
NC_000019.8:g.4061556T>C	NCBI36
NG_007996.1:g.18571A>G , LRG_750:g.18571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.840A>G
ENST00000687128.1:n.840A>G
ENST00000262948.10:c.401A>G MANE Select	ENSP00000262948.4:p.Tyr134Cys
ENST00000262948.9:c.401A>G	ENSP00000262948.3:p.Tyr134Cys
ENST00000394867.8:c.110A>G	ENSP00000378336.1:p.Tyr37Cys
ENST00000599345.1:n.598A>G
NM_030662.3:c.401A>G , LRG_750t1:c.401A>G	NP_109587.1:p.Tyr134Cys
XM_006722799.2:c.401A>G	XP_006722862.1:p.Tyr134Cys
XM_017026989.1:c.401A>G	XP_016882478.1:p.Tyr134Cys
XM_017026990.1:c.401A>G	XP_016882479.1:p.Tyr134Cys
XM_017026991.1:c.401A>G	XP_016882480.1:p.Tyr134Cys
NM_030662.4:c.401A>G MANE Select	NP_109587.1:p.Tyr134Cys