Canonical Allele Identifier: CA504986875
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145050246
MyVariant Identifiers: chr19:g.4099341C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099343C>T , CM000681.2:g.4099343C>T GRCh38
NC_000019.9:g.4099341C>T , CM000681.1:g.4099341C>T GRCh37
NC_000019.8:g.4050341C>T NCBI36
NG_007996.1:g.29786G>A , LRG_750:g.29786G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1216G>A
ENST00000687128.1:n.1216G>A
ENST00000688002.1:n.1071G>A
ENST00000689792.1:n.681G>A
ENST00000262948.10:c.777G>A MANE Select ENSP00000262948.4:p.Glu259=
ENST00000262948.9:c.777G>A ENSP00000262948.3:p.Glu259=
ENST00000394867.8:c.486G>A ENSP00000378336.1:p.Glu162=
ENST00000593364.5:n.724G>A
ENST00000595715.1:n.592G>A
ENST00000597263.5:n.169+1676G>A
ENST00000599021.1:c.29+1676G>A
ENST00000600584.5:n.1337G>A
ENST00000601786.5:n.1078G>A
NM_030662.3:c.777G>A , LRG_750t1:c.777G>A NP_109587.1:p.Glu259=
XM_006722799.2:c.705+1676G>A XP_006722862.1:n.705+1676G>A
XM_011528133.1:c.207G>A XP_011526435.1:p.Glu69=
XM_017026989.1:c.777G>A XP_016882478.1:p.Glu259=
XM_017026990.1:c.705+1676G>A XP_016882479.1:n.705+1676G>A
NM_030662.4:c.777G>A MANE Select NP_109587.1:p.Glu259=