Canonical Allele Identifier: CA9091008

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 496474
• ClinVar RCV Id: RCV000589407 ; RCV002065138 ; RCV002377219
• dbSNP Id: rs145524962
• ExAC: 19:4110558 G / A
• gnomAD v2: 19-4110558-G-A
• gnomAD v3: 19-4110560-G-A
• gnomAD v4: 19-4110560-G-A
• MyVariant Identifiers: chr19:g.4110558G>A (hg19) ; chr19:g.4110560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110560G>A , CM000681.2:g.4110560G>A	GRCh38
NC_000019.9:g.4110558G>A , CM000681.1:g.4110558G>A	GRCh37
NC_000019.8:g.4061558G>A	NCBI36
NG_007996.1:g.18569C>T , LRG_750:g.18569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.838C>T
ENST00000687128.1:n.838C>T
ENST00000262948.10:c.399C>T MANE Select	ENSP00000262948.4:p.Phe133=
ENST00000262948.9:c.399C>T	ENSP00000262948.3:p.Phe133=
ENST00000394867.8:c.108C>T	ENSP00000378336.1:p.Phe36=
ENST00000599345.1:n.596C>T
NM_030662.3:c.399C>T , LRG_750t1:c.399C>T	NP_109587.1:p.Phe133=
XM_006722799.2:c.399C>T	XP_006722862.1:p.Phe133=
XM_017026989.1:c.399C>T	XP_016882478.1:p.Phe133=
XM_017026990.1:c.399C>T	XP_016882479.1:p.Phe133=
XM_017026991.1:c.399C>T	XP_016882480.1:p.Phe133=
NM_030662.4:c.399C>T MANE Select	NP_109587.1:p.Phe133=