Canonical Allele Identifier: CA405424610
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732478T>A , CM000681.2:g.35732478T>A GRCh38
NC_000019.9:g.36223379T>A , CM000681.1:g.36223379T>A GRCh37
NC_000019.8:g.40915219T>A NCBI36
NG_052906.1:g.19460T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.235T>A
ENST00000673918.2:c.5863T>A ENSP00000501283.1:p.Phe1955Ile
ENST00000674114.2:c.3470T>A ENSP00000501039.2:n.3470T>A
ENST00000684977.1:c.1147T>A ENSP00000509384.1:p.Phe383Ile
ENST00000689544.1:n.1082T>A
ENST00000691421.1:c.1150T>A ENSP00000508674.1:p.Phe384Ile
ENST00000691855.1:c.5471T>A
ENST00000692961.1:c.5929T>A ENSP00000509289.1:p.Phe1977Ile
ENST00000693677.1:c.704+149T>A ENSP00000509779.1:n.704+149T>A
ENST00000420124.4:c.5929T>A MANE Select ENSP00000398837.2:p.Phe1977Ile
ENST00000673918.1:c.5863T>A ENSP00000501283.1:p.Phe1955Ile
ENST00000674114.1:c.3251T>A
ENST00000420124.2:c.5929T>A ENSP00000398837.1:p.Phe1977Ile
NM_014727.2:c.5929T>A NP_055542.1:p.Phe1977Ile
XM_011527561.1:c.5863T>A XP_011525863.1:p.Phe1955Ile
XM_011527562.1:c.5929T>A XP_011525864.1:p.Phe1977Ile
XM_011527563.1:c.5653T>A XP_011525865.1:p.Phe1885Ile
XM_011527561.2:c.5365T>A XP_011525863.2:p.Phe1789Ile
XM_011527562.2:c.5929T>A XP_011525864.1:p.Phe1977Ile
XM_017027544.1:c.5929T>A XP_016883033.1:p.Phe1977Ile
XM_017027545.1:c.5365T>A XP_016883034.1:p.Phe1789Ile
XM_017027546.1:c.2893T>A XP_016883035.1:p.Phe965Ile
NM_014727.3:c.5929T>A MANE Select NP_055542.1:p.Phe1977Ile