Canonical Allele Identifier: CA405419287
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730092C>A , CM000681.2:g.35730092C>A GRCh38
NC_000019.9:g.36220993C>A , CM000681.1:g.36220993C>A GRCh37
NC_000019.8:g.40912833C>A NCBI36
NG_052906.1:g.17074C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4977C>A ENSP00000501283.1:p.Phe1659Leu
ENST00000674114.2:c.2584C>A ENSP00000501039.2:n.2584C>A
ENST00000684977.1:c.261C>A ENSP00000509384.1:p.Phe87Leu
ENST00000685168.1:c.469C>A
ENST00000689544.1:n.196C>A
ENST00000691421.1:c.264C>A ENSP00000508674.1:p.Phe88Leu
ENST00000691855.1:c.4585C>A
ENST00000692961.1:c.5043C>A ENSP00000509289.1:p.Phe1681Leu
ENST00000420124.4:c.5043C>A MANE Select ENSP00000398837.2:p.Phe1681Leu
ENST00000673918.1:c.4977C>A ENSP00000501283.1:p.Phe1659Leu
ENST00000674114.1:c.2365C>A
ENST00000420124.2:c.5043C>A ENSP00000398837.1:p.Phe1681Leu
NM_014727.2:c.5043C>A NP_055542.1:p.Phe1681Leu
XM_011527561.1:c.4977C>A XP_011525863.1:p.Phe1659Leu
XM_011527562.1:c.5043C>A XP_011525864.1:p.Phe1681Leu
XM_011527563.1:c.4767C>A XP_011525865.1:p.Phe1589Leu
XM_011527561.2:c.4479C>A XP_011525863.2:p.Phe1493Leu
XM_011527562.2:c.5043C>A XP_011525864.1:p.Phe1681Leu
XM_017027544.1:c.5043C>A XP_016883033.1:p.Phe1681Leu
XM_017027545.1:c.4479C>A XP_016883034.1:p.Phe1493Leu
XM_017027546.1:c.2007C>A XP_016883035.1:p.Phe669Leu
NM_014727.3:c.5043C>A MANE Select NP_055542.1:p.Phe1681Leu