Canonical Allele Identifier: CA405424824
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732512C>A , CM000681.2:g.35732512C>A GRCh38
NC_000019.9:g.36223413C>A , CM000681.1:g.36223413C>A GRCh37
NC_000019.8:g.40915253C>A NCBI36
NG_052906.1:g.19494C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.269C>A
ENST00000673918.2:c.5897C>A ENSP00000501283.1:p.Ala1966Asp
ENST00000674114.2:c.3504C>A ENSP00000501039.2:n.3504C>A
ENST00000684977.1:c.1181C>A ENSP00000509384.1:p.Ala394Asp
ENST00000689544.1:n.1116C>A
ENST00000691421.1:c.1184C>A ENSP00000508674.1:p.Ala395Asp
ENST00000691855.1:c.5505C>A
ENST00000692961.1:c.5963C>A ENSP00000509289.1:p.Ala1988Asp
ENST00000693677.1:c.704+183C>A ENSP00000509779.1:n.704+183C>A
ENST00000420124.4:c.5963C>A MANE Select ENSP00000398837.2:p.Ala1988Asp
ENST00000673918.1:c.5897C>A ENSP00000501283.1:p.Ala1966Asp
ENST00000674114.1:c.3285C>A
ENST00000420124.2:c.5963C>A ENSP00000398837.1:p.Ala1988Asp
NM_014727.2:c.5963C>A NP_055542.1:p.Ala1988Asp
XM_011527561.1:c.5897C>A XP_011525863.1:p.Ala1966Asp
XM_011527562.1:c.5963C>A XP_011525864.1:p.Ala1988Asp
XM_011527563.1:c.5687C>A XP_011525865.1:p.Ala1896Asp
XM_011527561.2:c.5399C>A XP_011525863.2:p.Ala1800Asp
XM_011527562.2:c.5963C>A XP_011525864.1:p.Ala1988Asp
XM_017027544.1:c.5963C>A XP_016883033.1:p.Ala1988Asp
XM_017027545.1:c.5399C>A XP_016883034.1:p.Ala1800Asp
XM_017027546.1:c.2927C>A XP_016883035.1:p.Ala976Asp
NM_014727.3:c.5963C>A MANE Select NP_055542.1:p.Ala1988Asp