Canonical Allele Identifier: CA405428377
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732964G>C , CM000681.2:g.35732964G>C GRCh38
NC_000019.9:g.36223865G>C , CM000681.1:g.36223865G>C GRCh37
NC_000019.8:g.40915705G>C NCBI36
NG_052906.1:g.19946G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.721G>C
ENST00000673918.2:c.6349G>C ENSP00000501283.1:p.Ala2117Pro
ENST00000674114.2:c.3956G>C ENSP00000501039.2:n.3956G>C
ENST00000684977.1:c.1633G>C ENSP00000509384.1:p.Ala545Pro
ENST00000689544.1:n.1568G>C
ENST00000691421.1:c.1636G>C ENSP00000508674.1:p.Ala546Pro
ENST00000691855.1:c.5957G>C
ENST00000692961.1:c.6415G>C ENSP00000509289.1:p.Ala2139Pro
ENST00000693677.1:c.705-633G>C ENSP00000509779.1:n.705-633G>C
ENST00000420124.4:c.6415G>C MANE Select ENSP00000398837.2:p.Ala2139Pro
ENST00000673918.1:c.6349G>C ENSP00000501283.1:p.Ala2117Pro
ENST00000674114.1:c.3737G>C
ENST00000420124.2:c.6415G>C ENSP00000398837.1:p.Ala2139Pro
NM_014727.2:c.6415G>C NP_055542.1:p.Ala2139Pro
XM_011527561.1:c.6349G>C XP_011525863.1:p.Ala2117Pro
XM_011527562.1:c.6415G>C XP_011525864.1:p.Ala2139Pro
XM_011527563.1:c.6139G>C XP_011525865.1:p.Ala2047Pro
XM_011527561.2:c.5851G>C XP_011525863.2:p.Ala1951Pro
XM_011527562.2:c.6415G>C XP_011525864.1:p.Ala2139Pro
XM_017027544.1:c.6415G>C XP_016883033.1:p.Ala2139Pro
XM_017027545.1:c.5851G>C XP_016883034.1:p.Ala1951Pro
XM_017027546.1:c.3379G>C XP_016883035.1:p.Ala1127Pro
NM_014727.3:c.6415G>C MANE Select NP_055542.1:p.Ala2139Pro