Canonical Allele Identifier: CA504986896
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145050266
MyVariant Identifiers: chr19:g.4099347C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099349C>T , CM000681.2:g.4099349C>T GRCh38
NC_000019.9:g.4099347C>T , CM000681.1:g.4099347C>T GRCh37
NC_000019.8:g.4050347C>T NCBI36
NG_007996.1:g.29780G>A , LRG_750:g.29780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1210G>A
ENST00000687128.1:n.1210G>A
ENST00000688002.1:n.1065G>A
ENST00000689792.1:n.675G>A
ENST00000262948.10:c.771G>A MANE Select ENSP00000262948.4:p.Leu257=
ENST00000262948.9:c.771G>A ENSP00000262948.3:p.Leu257=
ENST00000394867.8:c.480G>A ENSP00000378336.1:p.Leu160=
ENST00000593364.5:n.718G>A
ENST00000595715.1:n.586G>A
ENST00000597263.5:n.169+1670G>A
ENST00000599021.1:c.29+1670G>A
ENST00000600584.5:n.1331G>A
ENST00000601786.5:n.1072G>A
NM_030662.3:c.771G>A , LRG_750t1:c.771G>A NP_109587.1:p.Leu257=
XM_006722799.2:c.705+1670G>A XP_006722862.1:n.705+1670G>A
XM_011528133.1:c.201G>A XP_011526435.1:p.Leu67=
XM_017026989.1:c.771G>A XP_016882478.1:p.Leu257=
XM_017026990.1:c.705+1670G>A XP_016882479.1:n.705+1670G>A
NM_030662.4:c.771G>A MANE Select NP_109587.1:p.Leu257=