Canonical Allele Identifier: CA9091063

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 40772
• ClinVar RCV Id: RCV000413006 ; RCV001063339 ; RCV000824945 ; RCV003153319 ; RCV003162290
• dbSNP Id: rs759061964
• ExAC: 19:4117446 T / C
• gnomAD v2: 19-4117446-T-C
• gnomAD v3: 19-4117448-T-C
• gnomAD v4: 19-4117448-T-C
• MyVariant Identifiers: chr19:g.4117446T>C (hg19) ; chr19:g.4117448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117448T>C , CM000681.2:g.4117448T>C	GRCh38
NC_000019.9:g.4117446T>C , CM000681.1:g.4117446T>C	GRCh37
NC_000019.8:g.4068446T>C	NCBI36
NG_007996.1:g.11681A>G , LRG_750:g.11681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.713A>G
ENST00000687128.1:n.713A>G
ENST00000262948.10:c.274A>G MANE Select	ENSP00000262948.4:p.Arg92Gly
ENST00000262948.9:c.274A>G	ENSP00000262948.3:p.Arg92Gly
ENST00000394867.8:c.-18A>G	ENSP00000378336.1:n.-18A>G
ENST00000599345.1:n.471A>G
NM_030662.3:c.274A>G , LRG_750t1:c.274A>G	NP_109587.1:p.Arg92Gly
XM_006722799.2:c.274A>G	XP_006722862.1:p.Arg92Gly
XM_017026989.1:c.274A>G	XP_016882478.1:p.Arg92Gly
XM_017026990.1:c.274A>G	XP_016882479.1:p.Arg92Gly
XM_017026991.1:c.274A>G	XP_016882480.1:p.Arg92Gly
NM_030662.4:c.274A>G MANE Select	NP_109587.1:p.Arg92Gly