Canonical Allele Identifier: CA405428012
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732905A>C , CM000681.2:g.35732905A>C GRCh38
NC_000019.9:g.36223806A>C , CM000681.1:g.36223806A>C GRCh37
NC_000019.8:g.40915646A>C NCBI36
NG_052906.1:g.19887A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.662A>C
ENST00000673918.2:c.6290A>C ENSP00000501283.1:p.Lys2097Thr
ENST00000674114.2:c.3897A>C ENSP00000501039.2:n.3897A>C
ENST00000684977.1:c.1574A>C ENSP00000509384.1:p.Lys525Thr
ENST00000689544.1:n.1509A>C
ENST00000691421.1:c.1577A>C ENSP00000508674.1:p.Lys526Thr
ENST00000691855.1:c.5898A>C
ENST00000692961.1:c.6356A>C ENSP00000509289.1:p.Lys2119Thr
ENST00000693677.1:c.704+576A>C ENSP00000509779.1:n.704+576A>C
ENST00000420124.4:c.6356A>C MANE Select ENSP00000398837.2:p.Lys2119Thr
ENST00000673918.1:c.6290A>C ENSP00000501283.1:p.Lys2097Thr
ENST00000674114.1:c.3678A>C
ENST00000420124.2:c.6356A>C ENSP00000398837.1:p.Lys2119Thr
NM_014727.2:c.6356A>C NP_055542.1:p.Lys2119Thr
XM_011527561.1:c.6290A>C XP_011525863.1:p.Lys2097Thr
XM_011527562.1:c.6356A>C XP_011525864.1:p.Lys2119Thr
XM_011527563.1:c.6080A>C XP_011525865.1:p.Lys2027Thr
XM_011527561.2:c.5792A>C XP_011525863.2:p.Lys1931Thr
XM_011527562.2:c.6356A>C XP_011525864.1:p.Lys2119Thr
XM_017027544.1:c.6356A>C XP_016883033.1:p.Lys2119Thr
XM_017027545.1:c.5792A>C XP_016883034.1:p.Lys1931Thr
XM_017027546.1:c.3320A>C XP_016883035.1:p.Lys1107Thr
NM_014727.3:c.6356A>C MANE Select NP_055542.1:p.Lys2119Thr