Canonical Allele Identifier: CA504987037
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs765121673
MyVariant Identifiers: chr19:g.4099383C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099385C>G , CM000681.2:g.4099385C>G GRCh38
NC_000019.9:g.4099383C>G , CM000681.1:g.4099383C>G GRCh37
NC_000019.8:g.4050383C>G NCBI36
NG_007996.1:g.29744G>C , LRG_750:g.29744G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1174G>C
ENST00000687128.1:n.1174G>C
ENST00000688002.1:n.1029G>C
ENST00000689792.1:n.646-7G>C
ENST00000262948.10:c.735G>C MANE Select ENSP00000262948.4:p.Ser245=
ENST00000262948.9:c.735G>C ENSP00000262948.3:p.Ser245=
ENST00000394867.8:c.444G>C ENSP00000378336.1:p.Ser148=
ENST00000593364.5:n.682G>C
ENST00000595715.1:n.550G>C
ENST00000597263.5:n.169+1634G>C
ENST00000599021.1:c.29+1634G>C
ENST00000600584.5:n.1295G>C
ENST00000601786.5:n.1036G>C
NM_030662.3:c.735G>C , LRG_750t1:c.735G>C NP_109587.1:p.Ser245=
XM_006722799.2:c.705+1634G>C XP_006722862.1:n.705+1634G>C
XM_011528133.1:c.165G>C XP_011526435.1:p.Ser55=
XM_017026989.1:c.735G>C XP_016882478.1:p.Ser245=
XM_017026990.1:c.705+1634G>C XP_016882479.1:n.705+1634G>C
NM_030662.4:c.735G>C MANE Select NP_109587.1:p.Ser245=