Canonical Allele Identifier: CA504984634
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145043542
MyVariant Identifiers: chr19:g.4095418G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095420G>A , CM000681.2:g.4095420G>A GRCh38
NC_000019.9:g.4095418G>A , CM000681.1:g.4095418G>A GRCh37
NC_000019.8:g.4046418G>A NCBI36
NG_007996.1:g.33709C>T , LRG_750:g.33709C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1453C>T
ENST00000688002.1:n.3165C>T
ENST00000688751.1:n.150C>T
ENST00000689792.1:n.918C>T
ENST00000262948.10:c.1014C>T MANE Select ENSP00000262948.4:p.Phe338=
ENST00000262948.9:c.1014C>T ENSP00000262948.3:p.Phe338=
ENST00000394867.8:c.723C>T ENSP00000378336.1:p.Phe241=
ENST00000595715.1:n.829C>T
ENST00000597263.5:n.199C>T
ENST00000599021.1:c.124C>T
ENST00000600584.5:n.1574C>T
ENST00000601786.5:n.1315C>T
NM_030662.3:c.1014C>T , LRG_750t1:c.1014C>T NP_109587.1:p.Phe338=
XM_006722799.2:c.735C>T XP_006722862.1:p.Phe245=
XM_011528133.1:c.444C>T XP_011526435.1:p.Phe148=
XM_017026989.1:c.1014C>T XP_016882478.1:p.Phe338=
XM_017026990.1:c.735C>T XP_016882479.1:p.Phe245=
NM_030662.4:c.1014C>T MANE Select NP_109587.1:p.Phe338=