Canonical Allele Identifier: CA504986819
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145050195
MyVariant Identifiers: chr19:g.4099329T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099331T>A , CM000681.2:g.4099331T>A GRCh38
NC_000019.9:g.4099329T>A , CM000681.1:g.4099329T>A GRCh37
NC_000019.8:g.4050329T>A NCBI36
NG_007996.1:g.29798A>T , LRG_750:g.29798A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1228A>T
ENST00000687128.1:n.1228A>T
ENST00000688002.1:n.1083A>T
ENST00000689792.1:n.693A>T
ENST00000262948.10:c.789A>T MANE Select ENSP00000262948.4:p.Gly263=
ENST00000262948.9:c.789A>T ENSP00000262948.3:p.Gly263=
ENST00000394867.8:c.498A>T ENSP00000378336.1:p.Gly166=
ENST00000593364.5:n.736A>T
ENST00000595715.1:n.604A>T
ENST00000597263.5:n.169+1688A>T
ENST00000599021.1:c.29+1688A>T
ENST00000600584.5:n.1349A>T
ENST00000601786.5:n.1090A>T
NM_030662.3:c.789A>T , LRG_750t1:c.789A>T NP_109587.1:p.Gly263=
XM_006722799.2:c.705+1688A>T XP_006722862.1:n.705+1688A>T
XM_011528133.1:c.219A>T XP_011526435.1:p.Gly73=
XM_017026989.1:c.789A>T XP_016882478.1:p.Gly263=
XM_017026990.1:c.705+1688A>T XP_016882479.1:n.705+1688A>T
NM_030662.4:c.789A>T MANE Select NP_109587.1:p.Gly263=