Canonical Allele Identifier: CA405424870
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732518A>C , CM000681.2:g.35732518A>C GRCh38
NC_000019.9:g.36223419A>C , CM000681.1:g.36223419A>C GRCh37
NC_000019.8:g.40915259A>C NCBI36
NG_052906.1:g.19500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.275A>C
ENST00000673918.2:c.5903A>C ENSP00000501283.1:p.Asp1968Ala
ENST00000674114.2:c.3510A>C ENSP00000501039.2:n.3510A>C
ENST00000684977.1:c.1187A>C ENSP00000509384.1:p.Asp396Ala
ENST00000689544.1:n.1122A>C
ENST00000691421.1:c.1190A>C ENSP00000508674.1:p.Asp397Ala
ENST00000691855.1:c.5511A>C
ENST00000692961.1:c.5969A>C ENSP00000509289.1:p.Asp1990Ala
ENST00000693677.1:c.704+189A>C ENSP00000509779.1:n.704+189A>C
ENST00000420124.4:c.5969A>C MANE Select ENSP00000398837.2:p.Asp1990Ala
ENST00000673918.1:c.5903A>C ENSP00000501283.1:p.Asp1968Ala
ENST00000674114.1:c.3291A>C
ENST00000420124.2:c.5969A>C ENSP00000398837.1:p.Asp1990Ala
NM_014727.2:c.5969A>C NP_055542.1:p.Asp1990Ala
XM_011527561.1:c.5903A>C XP_011525863.1:p.Asp1968Ala
XM_011527562.1:c.5969A>C XP_011525864.1:p.Asp1990Ala
XM_011527563.1:c.5693A>C XP_011525865.1:p.Asp1898Ala
XM_011527561.2:c.5405A>C XP_011525863.2:p.Asp1802Ala
XM_011527562.2:c.5969A>C XP_011525864.1:p.Asp1990Ala
XM_017027544.1:c.5969A>C XP_016883033.1:p.Asp1990Ala
XM_017027545.1:c.5405A>C XP_016883034.1:p.Asp1802Ala
XM_017027546.1:c.2933A>C XP_016883035.1:p.Asp978Ala
NM_014727.3:c.5969A>C MANE Select NP_055542.1:p.Asp1990Ala