Canonical Allele Identifier: CA250288

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 30170
• ClinVar RCV Id: RCV000023088 ; RCV000149835 ; RCV000413893
• dbSNP Id: rs387906800
• MyVariant Identifiers: chr19:g.4110562C>T (hg19) ; chr19:g.4110564C>T (hg38)
• PubMed: PMID:21178588

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110564C>T , CM000681.2:g.4110564C>T	GRCh38
NC_000019.9:g.4110562C>T , CM000681.1:g.4110562C>T	GRCh37
NC_000019.8:g.4061562C>T	NCBI36
NG_007996.1:g.18565G>A , LRG_750:g.18565G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.834G>A
ENST00000687128.1:n.834G>A
ENST00000262948.10:c.395G>A MANE Select	ENSP00000262948.4:p.Gly132Asp
ENST00000262948.9:c.395G>A	ENSP00000262948.3:p.Gly132Asp
ENST00000394867.8:c.104G>A	ENSP00000378336.1:p.Gly35Asp
ENST00000599345.1:n.592G>A
NM_030662.3:c.395G>A , LRG_750t1:c.395G>A	NP_109587.1:p.Gly132Asp
XM_006722799.2:c.395G>A	XP_006722862.1:p.Gly132Asp
XM_017026989.1:c.395G>A	XP_016882478.1:p.Gly132Asp
XM_017026990.1:c.395G>A	XP_016882479.1:p.Gly132Asp
XM_017026991.1:c.395G>A	XP_016882480.1:p.Gly132Asp
NM_030662.4:c.395G>A MANE Select	NP_109587.1:p.Gly132Asp