Canonical Allele Identifier: CA505162234

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1547509
• ClinVar RCV Id: RCV002177393
• dbSNP Id: rs200918323
• MyVariant Identifiers: chr19:g.4117429G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117431G>A , CM000681.2:g.4117431G>A	GRCh38
NC_000019.9:g.4117429G>A , CM000681.1:g.4117429G>A	GRCh37
NC_000019.8:g.4068429G>A	NCBI36
NG_007996.1:g.11698C>T , LRG_750:g.11698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.730C>T
ENST00000687128.1:n.730C>T
ENST00000262948.10:c.291C>T MANE Select	ENSP00000262948.4:p.Ile97=
ENST00000262948.9:c.291C>T	ENSP00000262948.3:p.Ile97=
ENST00000394867.8:c.-1C>T	ENSP00000378336.1:n.-1C>T
ENST00000599345.1:n.488C>T
NM_030662.3:c.291C>T , LRG_750t1:c.291C>T	NP_109587.1:p.Ile97=
XM_006722799.2:c.291C>T	XP_006722862.1:p.Ile97=
XM_017026989.1:c.291C>T	XP_016882478.1:p.Ile97=
XM_017026990.1:c.291C>T	XP_016882479.1:p.Ile97=
XM_017026991.1:c.291C>T	XP_016882480.1:p.Ile97=
NM_030662.4:c.291C>T MANE Select	NP_109587.1:p.Ile97=