Canonical Allele Identifier: CA405424551
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732465C>A , CM000681.2:g.35732465C>A GRCh38
NC_000019.9:g.36223366C>A , CM000681.1:g.36223366C>A GRCh37
NC_000019.8:g.40915206C>A NCBI36
NG_052906.1:g.19447C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.222C>A
ENST00000673918.2:c.5850C>A ENSP00000501283.1:p.Asp1950Glu
ENST00000674114.2:c.3457C>A ENSP00000501039.2:n.3457C>A
ENST00000684977.1:c.1134C>A ENSP00000509384.1:p.Asp378Glu
ENST00000689544.1:n.1069C>A
ENST00000691421.1:c.1137C>A ENSP00000508674.1:p.Asp379Glu
ENST00000691855.1:c.5458C>A
ENST00000692961.1:c.5916C>A ENSP00000509289.1:p.Asp1972Glu
ENST00000693677.1:c.704+136C>A ENSP00000509779.1:n.704+136C>A
ENST00000420124.4:c.5916C>A MANE Select ENSP00000398837.2:p.Asp1972Glu
ENST00000673918.1:c.5850C>A ENSP00000501283.1:p.Asp1950Glu
ENST00000674114.1:c.3238C>A
ENST00000420124.2:c.5916C>A ENSP00000398837.1:p.Asp1972Glu
NM_014727.2:c.5916C>A NP_055542.1:p.Asp1972Glu
XM_011527561.1:c.5850C>A XP_011525863.1:p.Asp1950Glu
XM_011527562.1:c.5916C>A XP_011525864.1:p.Asp1972Glu
XM_011527563.1:c.5640C>A XP_011525865.1:p.Asp1880Glu
XM_011527561.2:c.5352C>A XP_011525863.2:p.Asp1784Glu
XM_011527562.2:c.5916C>A XP_011525864.1:p.Asp1972Glu
XM_017027544.1:c.5916C>A XP_016883033.1:p.Asp1972Glu
XM_017027545.1:c.5352C>A XP_016883034.1:p.Asp1784Glu
XM_017027546.1:c.2880C>A XP_016883035.1:p.Asp960Glu
NM_014727.3:c.5916C>A MANE Select NP_055542.1:p.Asp1972Glu