Canonical Allele Identifier: CA403391424

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1495968
• ClinVar RCV Id: RCV002028395
• dbSNP Id: rs387906800
• MyVariant Identifiers: chr19:g.4110562C>A (hg19) ; chr19:g.4110564C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.834G>T
ENST00000687128.1:n.834G>T
ENST00000262948.10:c.395G>T MANE Select	ENSP00000262948.4:p.Gly132Val
ENST00000262948.9:c.395G>T	ENSP00000262948.3:p.Gly132Val
ENST00000394867.8:c.104G>T	ENSP00000378336.1:p.Gly35Val
ENST00000599345.1:n.592G>T
NM_030662.3:c.395G>T , LRG_750t1:c.395G>T	NP_109587.1:p.Gly132Val
XM_006722799.2:c.395G>T	XP_006722862.1:p.Gly132Val
XM_017026989.1:c.395G>T	XP_016882478.1:p.Gly132Val
XM_017026990.1:c.395G>T	XP_016882479.1:p.Gly132Val
XM_017026991.1:c.395G>T	XP_016882480.1:p.Gly132Val
NM_030662.4:c.395G>T MANE Select	NP_109587.1:p.Gly132Val