Canonical Allele Identifier: CA405428092
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732920C>A , CM000681.2:g.35732920C>A GRCh38
NC_000019.9:g.36223821C>A , CM000681.1:g.36223821C>A GRCh37
NC_000019.8:g.40915661C>A NCBI36
NG_052906.1:g.19902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.677C>A
ENST00000673918.2:c.6305C>A ENSP00000501283.1:p.Pro2102His
ENST00000674114.2:c.3912C>A ENSP00000501039.2:n.3912C>A
ENST00000684977.1:c.1589C>A ENSP00000509384.1:p.Pro530His
ENST00000689544.1:n.1524C>A
ENST00000691421.1:c.1592C>A ENSP00000508674.1:p.Pro531His
ENST00000691855.1:c.5913C>A
ENST00000692961.1:c.6371C>A ENSP00000509289.1:p.Pro2124His
ENST00000693677.1:c.704+591C>A ENSP00000509779.1:n.704+591C>A
ENST00000420124.4:c.6371C>A MANE Select ENSP00000398837.2:p.Pro2124His
ENST00000673918.1:c.6305C>A ENSP00000501283.1:p.Pro2102His
ENST00000674114.1:c.3693C>A
ENST00000420124.2:c.6371C>A ENSP00000398837.1:p.Pro2124His
NM_014727.2:c.6371C>A NP_055542.1:p.Pro2124His
XM_011527561.1:c.6305C>A XP_011525863.1:p.Pro2102His
XM_011527562.1:c.6371C>A XP_011525864.1:p.Pro2124His
XM_011527563.1:c.6095C>A XP_011525865.1:p.Pro2032His
XM_011527561.2:c.5807C>A XP_011525863.2:p.Pro1936His
XM_011527562.2:c.6371C>A XP_011525864.1:p.Pro2124His
XM_017027544.1:c.6371C>A XP_016883033.1:p.Pro2124His
XM_017027545.1:c.5807C>A XP_016883034.1:p.Pro1936His
XM_017027546.1:c.3335C>A XP_016883035.1:p.Pro1112His
NM_014727.3:c.6371C>A MANE Select NP_055542.1:p.Pro2124His