Canonical Allele Identifier: CA405424619
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732479T>G , CM000681.2:g.35732479T>G GRCh38
NC_000019.9:g.36223380T>G , CM000681.1:g.36223380T>G GRCh37
NC_000019.8:g.40915220T>G NCBI36
NG_052906.1:g.19461T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.236T>G
ENST00000673918.2:c.5864T>G ENSP00000501283.1:p.Phe1955Cys
ENST00000674114.2:c.3471T>G ENSP00000501039.2:n.3471T>G
ENST00000684977.1:c.1148T>G ENSP00000509384.1:p.Phe383Cys
ENST00000689544.1:n.1083T>G
ENST00000691421.1:c.1151T>G ENSP00000508674.1:p.Phe384Cys
ENST00000691855.1:c.5472T>G
ENST00000692961.1:c.5930T>G ENSP00000509289.1:p.Phe1977Cys
ENST00000693677.1:c.704+150T>G ENSP00000509779.1:n.704+150T>G
ENST00000420124.4:c.5930T>G MANE Select ENSP00000398837.2:p.Phe1977Cys
ENST00000673918.1:c.5864T>G ENSP00000501283.1:p.Phe1955Cys
ENST00000674114.1:c.3252T>G
ENST00000420124.2:c.5930T>G ENSP00000398837.1:p.Phe1977Cys
NM_014727.2:c.5930T>G NP_055542.1:p.Phe1977Cys
XM_011527561.1:c.5864T>G XP_011525863.1:p.Phe1955Cys
XM_011527562.1:c.5930T>G XP_011525864.1:p.Phe1977Cys
XM_011527563.1:c.5654T>G XP_011525865.1:p.Phe1885Cys
XM_011527561.2:c.5366T>G XP_011525863.2:p.Phe1789Cys
XM_011527562.2:c.5930T>G XP_011525864.1:p.Phe1977Cys
XM_017027544.1:c.5930T>G XP_016883033.1:p.Phe1977Cys
XM_017027545.1:c.5366T>G XP_016883034.1:p.Phe1789Cys
XM_017027546.1:c.2894T>G XP_016883035.1:p.Phe965Cys
NM_014727.3:c.5930T>G MANE Select NP_055542.1:p.Phe1977Cys