Canonical Allele Identifier: CA405425376
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732592A>C , CM000681.2:g.35732592A>C GRCh38
NC_000019.9:g.36223493A>C , CM000681.1:g.36223493A>C GRCh37
NC_000019.8:g.40915333A>C NCBI36
NG_052906.1:g.19574A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.349A>C
ENST00000673918.2:c.5977A>C ENSP00000501283.1:p.Ser1993Arg
ENST00000674114.2:c.3584A>C ENSP00000501039.2:n.3584A>C
ENST00000684977.1:c.1261A>C ENSP00000509384.1:p.Ser421Arg
ENST00000689544.1:n.1196A>C
ENST00000691421.1:c.1264A>C ENSP00000508674.1:p.Ser422Arg
ENST00000691855.1:c.5585A>C
ENST00000692961.1:c.6043A>C ENSP00000509289.1:p.Ser2015Arg
ENST00000693677.1:c.704+263A>C ENSP00000509779.1:n.704+263A>C
ENST00000420124.4:c.6043A>C MANE Select ENSP00000398837.2:p.Ser2015Arg
ENST00000673918.1:c.5977A>C ENSP00000501283.1:p.Ser1993Arg
ENST00000674114.1:c.3365A>C
ENST00000420124.2:c.6043A>C ENSP00000398837.1:p.Ser2015Arg
NM_014727.2:c.6043A>C NP_055542.1:p.Ser2015Arg
XM_011527561.1:c.5977A>C XP_011525863.1:p.Ser1993Arg
XM_011527562.1:c.6043A>C XP_011525864.1:p.Ser2015Arg
XM_011527563.1:c.5767A>C XP_011525865.1:p.Ser1923Arg
XM_011527561.2:c.5479A>C XP_011525863.2:p.Ser1827Arg
XM_011527562.2:c.6043A>C XP_011525864.1:p.Ser2015Arg
XM_017027544.1:c.6043A>C XP_016883033.1:p.Ser2015Arg
XM_017027545.1:c.5479A>C XP_016883034.1:p.Ser1827Arg
XM_017027546.1:c.3007A>C XP_016883035.1:p.Ser1003Arg
NM_014727.3:c.6043A>C MANE Select NP_055542.1:p.Ser2015Arg