Canonical Allele Identifier: CA405424629
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732481G>T , CM000681.2:g.35732481G>T GRCh38
NC_000019.9:g.36223382G>T , CM000681.1:g.36223382G>T GRCh37
NC_000019.8:g.40915222G>T NCBI36
NG_052906.1:g.19463G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.238G>T
ENST00000673918.2:c.5866G>T ENSP00000501283.1:p.Glu1956Ter
ENST00000674114.2:c.3473G>T ENSP00000501039.2:n.3473G>T
ENST00000684977.1:c.1150G>T ENSP00000509384.1:p.Glu384Ter
ENST00000689544.1:n.1085G>T
ENST00000691421.1:c.1153G>T ENSP00000508674.1:p.Glu385Ter
ENST00000691855.1:c.5474G>T
ENST00000692961.1:c.5932G>T ENSP00000509289.1:p.Glu1978Ter
ENST00000693677.1:c.704+152G>T ENSP00000509779.1:n.704+152G>T
ENST00000420124.4:c.5932G>T MANE Select ENSP00000398837.2:p.Glu1978Ter
ENST00000673918.1:c.5866G>T ENSP00000501283.1:p.Glu1956Ter
ENST00000674114.1:c.3254G>T
ENST00000420124.2:c.5932G>T ENSP00000398837.1:p.Glu1978Ter
NM_014727.2:c.5932G>T NP_055542.1:p.Glu1978Ter
XM_011527561.1:c.5866G>T XP_011525863.1:p.Glu1956Ter
XM_011527562.1:c.5932G>T XP_011525864.1:p.Glu1978Ter
XM_011527563.1:c.5656G>T XP_011525865.1:p.Glu1886Ter
XM_011527561.2:c.5368G>T XP_011525863.2:p.Glu1790Ter
XM_011527562.2:c.5932G>T XP_011525864.1:p.Glu1978Ter
XM_017027544.1:c.5932G>T XP_016883033.1:p.Glu1978Ter
XM_017027545.1:c.5368G>T XP_016883034.1:p.Glu1790Ter
XM_017027546.1:c.2896G>T XP_016883035.1:p.Glu966Ter
NM_014727.3:c.5932G>T MANE Select NP_055542.1:p.Glu1978Ter