Canonical Allele Identifier: CA403392870

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2145080719
• MyVariant Identifiers: chr19:g.4117589A>C (hg19) ; chr19:g.4117591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117591A>C , CM000681.2:g.4117591A>C	GRCh38
NC_000019.9:g.4117589A>C , CM000681.1:g.4117589A>C	GRCh37
NC_000019.8:g.4068589A>C	NCBI36
NG_007996.1:g.11538T>G , LRG_750:g.11538T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.570T>G
ENST00000687128.1:n.570T>G
ENST00000262948.10:c.131T>G MANE Select	ENSP00000262948.4:p.Leu44Arg
ENST00000262948.9:c.131T>G	ENSP00000262948.3:p.Leu44Arg
ENST00000394867.8:c.-161T>G	ENSP00000378336.1:n.-161T>G
ENST00000599345.1:n.328T>G
NM_030662.3:c.131T>G , LRG_750t1:c.131T>G	NP_109587.1:p.Leu44Arg
XM_006722799.2:c.131T>G	XP_006722862.1:p.Leu44Arg
XM_017026989.1:c.131T>G	XP_016882478.1:p.Leu44Arg
XM_017026990.1:c.131T>G	XP_016882479.1:p.Leu44Arg
XM_017026991.1:c.131T>G	XP_016882480.1:p.Leu44Arg
NM_030662.4:c.131T>G MANE Select	NP_109587.1:p.Leu44Arg