Canonical Allele Identifier: CA405424822
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732511G>C , CM000681.2:g.35732511G>C GRCh38
NC_000019.9:g.36223412G>C , CM000681.1:g.36223412G>C GRCh37
NC_000019.8:g.40915252G>C NCBI36
NG_052906.1:g.19493G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.268G>C
ENST00000673918.2:c.5896G>C ENSP00000501283.1:p.Ala1966Pro
ENST00000674114.2:c.3503G>C ENSP00000501039.2:n.3503G>C
ENST00000684977.1:c.1180G>C ENSP00000509384.1:p.Ala394Pro
ENST00000689544.1:n.1115G>C
ENST00000691421.1:c.1183G>C ENSP00000508674.1:p.Ala395Pro
ENST00000691855.1:c.5504G>C
ENST00000692961.1:c.5962G>C ENSP00000509289.1:p.Ala1988Pro
ENST00000693677.1:c.704+182G>C ENSP00000509779.1:n.704+182G>C
ENST00000420124.4:c.5962G>C MANE Select ENSP00000398837.2:p.Ala1988Pro
ENST00000673918.1:c.5896G>C ENSP00000501283.1:p.Ala1966Pro
ENST00000674114.1:c.3284G>C
ENST00000420124.2:c.5962G>C ENSP00000398837.1:p.Ala1988Pro
NM_014727.2:c.5962G>C NP_055542.1:p.Ala1988Pro
XM_011527561.1:c.5896G>C XP_011525863.1:p.Ala1966Pro
XM_011527562.1:c.5962G>C XP_011525864.1:p.Ala1988Pro
XM_011527563.1:c.5686G>C XP_011525865.1:p.Ala1896Pro
XM_011527561.2:c.5398G>C XP_011525863.2:p.Ala1800Pro
XM_011527562.2:c.5962G>C XP_011525864.1:p.Ala1988Pro
XM_017027544.1:c.5962G>C XP_016883033.1:p.Ala1988Pro
XM_017027545.1:c.5398G>C XP_016883034.1:p.Ala1800Pro
XM_017027546.1:c.2926G>C XP_016883035.1:p.Ala976Pro
NM_014727.3:c.5962G>C MANE Select NP_055542.1:p.Ala1988Pro