Canonical Allele Identifier: CA405427345
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732803C>T , CM000681.2:g.35732803C>T GRCh38
NC_000019.9:g.36223704C>T , CM000681.1:g.36223704C>T GRCh37
NC_000019.8:g.40915544C>T NCBI36
NG_052906.1:g.19785C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.560C>T
ENST00000673918.2:c.6188C>T ENSP00000501283.1:p.Pro2063Leu
ENST00000674114.2:c.3795C>T ENSP00000501039.2:n.3795C>T
ENST00000684977.1:c.1472C>T ENSP00000509384.1:p.Pro491Leu
ENST00000689544.1:n.1407C>T
ENST00000691421.1:c.1475C>T ENSP00000508674.1:p.Pro492Leu
ENST00000691855.1:c.5796C>T
ENST00000692961.1:c.6254C>T ENSP00000509289.1:p.Pro2085Leu
ENST00000693677.1:c.704+474C>T ENSP00000509779.1:n.704+474C>T
ENST00000420124.4:c.6254C>T MANE Select ENSP00000398837.2:p.Pro2085Leu
ENST00000673918.1:c.6188C>T ENSP00000501283.1:p.Pro2063Leu
ENST00000674114.1:c.3576C>T
ENST00000420124.2:c.6254C>T ENSP00000398837.1:p.Pro2085Leu
NM_014727.2:c.6254C>T NP_055542.1:p.Pro2085Leu
XM_011527561.1:c.6188C>T XP_011525863.1:p.Pro2063Leu
XM_011527562.1:c.6254C>T XP_011525864.1:p.Pro2085Leu
XM_011527563.1:c.5978C>T XP_011525865.1:p.Pro1993Leu
XM_011527561.2:c.5690C>T XP_011525863.2:p.Pro1897Leu
XM_011527562.2:c.6254C>T XP_011525864.1:p.Pro2085Leu
XM_017027544.1:c.6254C>T XP_016883033.1:p.Pro2085Leu
XM_017027545.1:c.5690C>T XP_016883034.1:p.Pro1897Leu
XM_017027546.1:c.3218C>T XP_016883035.1:p.Pro1073Leu
NM_014727.3:c.6254C>T MANE Select NP_055542.1:p.Pro2085Leu