Canonical Allele Identifier: CA405428926
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733052G>C , CM000681.2:g.35733052G>C GRCh38
NC_000019.9:g.36223953G>C , CM000681.1:g.36223953G>C GRCh37
NC_000019.8:g.40915793G>C NCBI36
NG_052906.1:g.20034G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.809G>C
ENST00000673918.2:c.6437G>C ENSP00000501283.1:p.Gly2146Ala
ENST00000674114.2:c.4044G>C ENSP00000501039.2:n.4044G>C
ENST00000684977.1:c.1721G>C ENSP00000509384.1:p.Gly574Ala
ENST00000689544.1:n.1656G>C
ENST00000691421.1:c.1724G>C ENSP00000508674.1:p.Gly575Ala
ENST00000691855.1:c.6045G>C
ENST00000692961.1:c.6503G>C ENSP00000509289.1:p.Gly2168Ala
ENST00000693677.1:c.705-545G>C ENSP00000509779.1:n.705-545G>C
ENST00000420124.4:c.6503G>C MANE Select ENSP00000398837.2:p.Gly2168Ala
ENST00000673918.1:c.6437G>C ENSP00000501283.1:p.Gly2146Ala
ENST00000674114.1:c.3825G>C
ENST00000420124.2:c.6503G>C ENSP00000398837.1:p.Gly2168Ala
NM_014727.2:c.6503G>C NP_055542.1:p.Gly2168Ala
XM_011527561.1:c.6437G>C XP_011525863.1:p.Gly2146Ala
XM_011527562.1:c.6503G>C XP_011525864.1:p.Gly2168Ala
XM_011527563.1:c.6227G>C XP_011525865.1:p.Gly2076Ala
XM_011527561.2:c.5939G>C XP_011525863.2:p.Gly1980Ala
XM_011527562.2:c.6503G>C XP_011525864.1:p.Gly2168Ala
XM_017027544.1:c.6503G>C XP_016883033.1:p.Gly2168Ala
XM_017027545.1:c.5939G>C XP_016883034.1:p.Gly1980Ala
XM_017027546.1:c.3467G>C XP_016883035.1:p.Gly1156Ala
NM_014727.3:c.6503G>C MANE Select NP_055542.1:p.Gly2168Ala