Canonical Allele Identifier: CA405427676
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732856G>C , CM000681.2:g.35732856G>C GRCh38
NC_000019.9:g.36223757G>C , CM000681.1:g.36223757G>C GRCh37
NC_000019.8:g.40915597G>C NCBI36
NG_052906.1:g.19838G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.613G>C
ENST00000673918.2:c.6241G>C ENSP00000501283.1:p.Ala2081Pro
ENST00000674114.2:c.3848G>C ENSP00000501039.2:n.3848G>C
ENST00000684977.1:c.1525G>C ENSP00000509384.1:p.Ala509Pro
ENST00000689544.1:n.1460G>C
ENST00000691421.1:c.1528G>C ENSP00000508674.1:p.Ala510Pro
ENST00000691855.1:c.5849G>C
ENST00000692961.1:c.6307G>C ENSP00000509289.1:p.Ala2103Pro
ENST00000693677.1:c.704+527G>C ENSP00000509779.1:n.704+527G>C
ENST00000420124.4:c.6307G>C MANE Select ENSP00000398837.2:p.Ala2103Pro
ENST00000673918.1:c.6241G>C ENSP00000501283.1:p.Ala2081Pro
ENST00000674114.1:c.3629G>C
ENST00000420124.2:c.6307G>C ENSP00000398837.1:p.Ala2103Pro
NM_014727.2:c.6307G>C NP_055542.1:p.Ala2103Pro
XM_011527561.1:c.6241G>C XP_011525863.1:p.Ala2081Pro
XM_011527562.1:c.6307G>C XP_011525864.1:p.Ala2103Pro
XM_011527563.1:c.6031G>C XP_011525865.1:p.Ala2011Pro
XM_011527561.2:c.5743G>C XP_011525863.2:p.Ala1915Pro
XM_011527562.2:c.6307G>C XP_011525864.1:p.Ala2103Pro
XM_017027544.1:c.6307G>C XP_016883033.1:p.Ala2103Pro
XM_017027545.1:c.5743G>C XP_016883034.1:p.Ala1915Pro
XM_017027546.1:c.3271G>C XP_016883035.1:p.Ala1091Pro
NM_014727.3:c.6307G>C MANE Select NP_055542.1:p.Ala2103Pro