Canonical Allele Identifier: CA279958

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 8272
• ClinVar RCV Id: RCV000008761 ; RCV000158038 ; RCV000208756
• dbSNP Id: rs121434497
• COSMIC: COSM5546577
• MyVariant Identifiers: chr19:g.4117550A>C (hg19) ; chr19:g.4117552A>C (hg38)
• ERepo: CA279958/MONDO:0015280/004
• PubMed: PMID:16439621 ; PMID:17981815 ; PMID:18413255 ; PMID:20301365
• CIViC: CA279958

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117552A>C , CM000681.2:g.4117552A>C	GRCh38
NC_000019.9:g.4117550A>C , CM000681.1:g.4117550A>C	GRCh37
NC_000019.8:g.4068550A>C	NCBI36
NG_007996.1:g.11577T>G , LRG_750:g.11577T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.609T>G
ENST00000687128.1:n.609T>G
ENST00000262948.10:c.170T>G MANE Select	ENSP00000262948.4:p.Phe57Cys
ENST00000262948.9:c.170T>G	ENSP00000262948.3:p.Phe57Cys
ENST00000394867.8:c.-122T>G	ENSP00000378336.1:n.-122T>G
ENST00000599345.1:n.367T>G
NM_030662.3:c.170T>G , LRG_750t1:c.170T>G	NP_109587.1:p.Phe57Cys
XM_006722799.2:c.170T>G	XP_006722862.1:p.Phe57Cys
XM_017026989.1:c.170T>G	XP_016882478.1:p.Phe57Cys
XM_017026990.1:c.170T>G	XP_016882479.1:p.Phe57Cys
XM_017026991.1:c.170T>G	XP_016882480.1:p.Phe57Cys
NM_030662.4:c.170T>G MANE Select	NP_109587.1:p.Phe57Cys