Canonical Allele Identifier: CA405427272
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732794G>C , CM000681.2:g.35732794G>C GRCh38
NC_000019.9:g.36223695G>C , CM000681.1:g.36223695G>C GRCh37
NC_000019.8:g.40915535G>C NCBI36
NG_052906.1:g.19776G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.551G>C
ENST00000673918.2:c.6179G>C ENSP00000501283.1:p.Gly2060Ala
ENST00000674114.2:c.3786G>C ENSP00000501039.2:n.3786G>C
ENST00000684977.1:c.1463G>C ENSP00000509384.1:p.Gly488Ala
ENST00000689544.1:n.1398G>C
ENST00000691421.1:c.1466G>C ENSP00000508674.1:p.Gly489Ala
ENST00000691855.1:c.5787G>C
ENST00000692961.1:c.6245G>C ENSP00000509289.1:p.Gly2082Ala
ENST00000693677.1:c.704+465G>C ENSP00000509779.1:n.704+465G>C
ENST00000420124.4:c.6245G>C MANE Select ENSP00000398837.2:p.Gly2082Ala
ENST00000673918.1:c.6179G>C ENSP00000501283.1:p.Gly2060Ala
ENST00000674114.1:c.3567G>C
ENST00000420124.2:c.6245G>C ENSP00000398837.1:p.Gly2082Ala
NM_014727.2:c.6245G>C NP_055542.1:p.Gly2082Ala
XM_011527561.1:c.6179G>C XP_011525863.1:p.Gly2060Ala
XM_011527562.1:c.6245G>C XP_011525864.1:p.Gly2082Ala
XM_011527563.1:c.5969G>C XP_011525865.1:p.Gly1990Ala
XM_011527561.2:c.5681G>C XP_011525863.2:p.Gly1894Ala
XM_011527562.2:c.6245G>C XP_011525864.1:p.Gly2082Ala
XM_017027544.1:c.6245G>C XP_016883033.1:p.Gly2082Ala
XM_017027545.1:c.5681G>C XP_016883034.1:p.Gly1894Ala
XM_017027546.1:c.3209G>C XP_016883035.1:p.Gly1070Ala
NM_014727.3:c.6245G>C MANE Select NP_055542.1:p.Gly2082Ala