Canonical Allele Identifier: CA405429716
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733202C>A , CM000681.2:g.35733202C>A GRCh38
NC_000019.9:g.36224103C>A , CM000681.1:g.36224103C>A GRCh37
NC_000019.8:g.40915943C>A NCBI36
NG_052906.1:g.20184C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.959C>A
ENST00000673918.2:c.6587C>A ENSP00000501283.1:p.Pro2196Gln
ENST00000674114.2:c.4194C>A ENSP00000501039.2:n.4194C>A
ENST00000684977.1:c.1871C>A ENSP00000509384.1:p.Pro624Gln
ENST00000689544.1:n.1806C>A
ENST00000691421.1:c.1874C>A ENSP00000508674.1:p.Pro625Gln
ENST00000691855.1:c.6195C>A
ENST00000692961.1:c.6653C>A ENSP00000509289.1:p.Pro2218Gln
ENST00000693677.1:c.705-395C>A ENSP00000509779.1:n.705-395C>A
ENST00000420124.4:c.6653C>A MANE Select ENSP00000398837.2:p.Pro2218Gln
ENST00000673918.1:c.6587C>A ENSP00000501283.1:p.Pro2196Gln
ENST00000674114.1:c.3975C>A
ENST00000420124.2:c.6653C>A ENSP00000398837.1:p.Pro2218Gln
NM_014727.2:c.6653C>A NP_055542.1:p.Pro2218Gln
XM_011527561.1:c.6587C>A XP_011525863.1:p.Pro2196Gln
XM_011527562.1:c.6653C>A XP_011525864.1:p.Pro2218Gln
XM_011527563.1:c.6377C>A XP_011525865.1:p.Pro2126Gln
XM_011527561.2:c.6089C>A XP_011525863.2:p.Pro2030Gln
XM_011527562.2:c.6653C>A XP_011525864.1:p.Pro2218Gln
XM_017027544.1:c.6653C>A XP_016883033.1:p.Pro2218Gln
XM_017027545.1:c.6089C>A XP_016883034.1:p.Pro2030Gln
XM_017027546.1:c.3617C>A XP_016883035.1:p.Pro1206Gln
NM_014727.3:c.6653C>A MANE Select NP_055542.1:p.Pro2218Gln