Canonical Allele Identifier: CA504987041
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs150374370
MyVariant Identifiers: chr19:g.4099392T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099394T>G , CM000681.2:g.4099394T>G GRCh38
NC_000019.9:g.4099392T>G , CM000681.1:g.4099392T>G GRCh37
NC_000019.8:g.4050392T>G NCBI36
NG_007996.1:g.29735A>C , LRG_750:g.29735A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1165A>C
ENST00000687128.1:n.1165A>C
ENST00000688002.1:n.1020A>C
ENST00000689792.1:n.646-16A>C
ENST00000262948.10:c.726A>C MANE Select ENSP00000262948.4:p.Thr242=
ENST00000262948.9:c.726A>C ENSP00000262948.3:p.Thr242=
ENST00000394867.8:c.435A>C ENSP00000378336.1:p.Thr145=
ENST00000593364.5:n.673A>C
ENST00000595715.1:n.541A>C
ENST00000597263.5:n.169+1625A>C
ENST00000599021.1:c.29+1625A>C
ENST00000600584.5:n.1286A>C
ENST00000601786.5:n.1027A>C
NM_030662.3:c.726A>C , LRG_750t1:c.726A>C NP_109587.1:p.Thr242=
XM_006722799.2:c.705+1625A>C XP_006722862.1:n.705+1625A>C
XM_011528133.1:c.156A>C XP_011526435.1:p.Thr52=
XM_017026989.1:c.726A>C XP_016882478.1:p.Thr242=
XM_017026990.1:c.705+1625A>C XP_016882479.1:n.705+1625A>C
NM_030662.4:c.726A>C MANE Select NP_109587.1:p.Thr242=