Canonical Allele Identifier: CA405427668
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732855G>C , CM000681.2:g.35732855G>C GRCh38
NC_000019.9:g.36223756G>C , CM000681.1:g.36223756G>C GRCh37
NC_000019.8:g.40915596G>C NCBI36
NG_052906.1:g.19837G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.612G>C
ENST00000673918.2:c.6240G>C ENSP00000501283.1:p.Arg2080Ser
ENST00000674114.2:c.3847G>C ENSP00000501039.2:n.3847G>C
ENST00000684977.1:c.1524G>C ENSP00000509384.1:p.Arg508Ser
ENST00000689544.1:n.1459G>C
ENST00000691421.1:c.1527G>C ENSP00000508674.1:p.Arg509Ser
ENST00000691855.1:c.5848G>C
ENST00000692961.1:c.6306G>C ENSP00000509289.1:p.Arg2102Ser
ENST00000693677.1:c.704+526G>C ENSP00000509779.1:n.704+526G>C
ENST00000420124.4:c.6306G>C MANE Select ENSP00000398837.2:p.Arg2102Ser
ENST00000673918.1:c.6240G>C ENSP00000501283.1:p.Arg2080Ser
ENST00000674114.1:c.3628G>C
ENST00000420124.2:c.6306G>C ENSP00000398837.1:p.Arg2102Ser
NM_014727.2:c.6306G>C NP_055542.1:p.Arg2102Ser
XM_011527561.1:c.6240G>C XP_011525863.1:p.Arg2080Ser
XM_011527562.1:c.6306G>C XP_011525864.1:p.Arg2102Ser
XM_011527563.1:c.6030G>C XP_011525865.1:p.Arg2010Ser
XM_011527561.2:c.5742G>C XP_011525863.2:p.Arg1914Ser
XM_011527562.2:c.6306G>C XP_011525864.1:p.Arg2102Ser
XM_017027544.1:c.6306G>C XP_016883033.1:p.Arg2102Ser
XM_017027545.1:c.5742G>C XP_016883034.1:p.Arg1914Ser
XM_017027546.1:c.3270G>C XP_016883035.1:p.Arg1090Ser
NM_014727.3:c.6306G>C MANE Select NP_055542.1:p.Arg2102Ser