Canonical Allele Identifier: CA9385269
Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 3020636
ClinVar RCV Id: RCV003879795
dbSNP Id: rs372432644

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730035C>T , CM000681.2:g.35730035C>T GRCh38
NC_000019.9:g.36220936C>T , CM000681.1:g.36220936C>T GRCh37
NC_000019.8:g.40912776C>T NCBI36
NG_052906.1:g.17017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4920C>T ENSP00000501283.1:p.Phe1640=
ENST00000674114.2:c.2527C>T ENSP00000501039.2:n.2527C>T
ENST00000684977.1:c.204C>T ENSP00000509384.1:p.Phe68=
ENST00000685168.1:c.412C>T
ENST00000689544.1:n.139C>T
ENST00000691421.1:c.207C>T ENSP00000508674.1:p.Phe69=
ENST00000691855.1:c.4528C>T
ENST00000692961.1:c.4986C>T ENSP00000509289.1:p.Phe1662=
ENST00000420124.4:c.4986C>T MANE Select ENSP00000398837.2:p.Phe1662=
ENST00000673918.1:c.4920C>T ENSP00000501283.1:p.Phe1640=
ENST00000674114.1:c.2308C>T
ENST00000420124.2:c.4986C>T ENSP00000398837.1:p.Phe1662=
NM_014727.2:c.4986C>T NP_055542.1:p.Phe1662=
XM_011527561.1:c.4920C>T XP_011525863.1:p.Phe1640=
XM_011527562.1:c.4986C>T XP_011525864.1:p.Phe1662=
XM_011527563.1:c.4710C>T XP_011525865.1:p.Phe1570=
XM_011527561.2:c.4422C>T XP_011525863.2:p.Phe1474=
XM_011527562.2:c.4986C>T XP_011525864.1:p.Phe1662=
XM_017027544.1:c.4986C>T XP_016883033.1:p.Phe1662=
XM_017027545.1:c.4422C>T XP_016883034.1:p.Phe1474=
XM_017027546.1:c.1950C>T XP_016883035.1:p.Phe650=
NM_014727.3:c.4986C>T MANE Select NP_055542.1:p.Phe1662=