Canonical Allele Identifier: CA403392807

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 666423
• ClinVar RCV Id: RCV000824942
• dbSNP Id: rs1599307416
• MyVariant Identifiers: chr19:g.4117571T>C (hg19) ; chr19:g.4117573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117573T>C , CM000681.2:g.4117573T>C	GRCh38
NC_000019.9:g.4117571T>C , CM000681.1:g.4117571T>C	GRCh37
NC_000019.8:g.4068571T>C	NCBI36
NG_007996.1:g.11556A>G , LRG_750:g.11556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.588A>G
ENST00000687128.1:n.588A>G
ENST00000262948.10:c.149A>G MANE Select	ENSP00000262948.4:p.Gln50Arg
ENST00000262948.9:c.149A>G	ENSP00000262948.3:p.Gln50Arg
ENST00000394867.8:c.-143A>G	ENSP00000378336.1:n.-143A>G
ENST00000599345.1:n.346A>G
NM_030662.3:c.149A>G , LRG_750t1:c.149A>G	NP_109587.1:p.Gln50Arg
XM_006722799.2:c.149A>G	XP_006722862.1:p.Gln50Arg
XM_017026989.1:c.149A>G	XP_016882478.1:p.Gln50Arg
XM_017026990.1:c.149A>G	XP_016882479.1:p.Gln50Arg
XM_017026991.1:c.149A>G	XP_016882480.1:p.Gln50Arg
NM_030662.4:c.149A>G MANE Select	NP_109587.1:p.Gln50Arg