Canonical Allele Identifier: CA405428938
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733054G>C , CM000681.2:g.35733054G>C GRCh38
NC_000019.9:g.36223955G>C , CM000681.1:g.36223955G>C GRCh37
NC_000019.8:g.40915795G>C NCBI36
NG_052906.1:g.20036G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.811G>C
ENST00000673918.2:c.6439G>C ENSP00000501283.1:p.Ala2147Pro
ENST00000674114.2:c.4046G>C ENSP00000501039.2:n.4046G>C
ENST00000684977.1:c.1723G>C ENSP00000509384.1:p.Ala575Pro
ENST00000689544.1:n.1658G>C
ENST00000691421.1:c.1726G>C ENSP00000508674.1:p.Ala576Pro
ENST00000691855.1:c.6047G>C
ENST00000692961.1:c.6505G>C ENSP00000509289.1:p.Ala2169Pro
ENST00000693677.1:c.705-543G>C ENSP00000509779.1:n.705-543G>C
ENST00000420124.4:c.6505G>C MANE Select ENSP00000398837.2:p.Ala2169Pro
ENST00000673918.1:c.6439G>C ENSP00000501283.1:p.Ala2147Pro
ENST00000674114.1:c.3827G>C
ENST00000420124.2:c.6505G>C ENSP00000398837.1:p.Ala2169Pro
NM_014727.2:c.6505G>C NP_055542.1:p.Ala2169Pro
XM_011527561.1:c.6439G>C XP_011525863.1:p.Ala2147Pro
XM_011527562.1:c.6505G>C XP_011525864.1:p.Ala2169Pro
XM_011527563.1:c.6229G>C XP_011525865.1:p.Ala2077Pro
XM_011527561.2:c.5941G>C XP_011525863.2:p.Ala1981Pro
XM_011527562.2:c.6505G>C XP_011525864.1:p.Ala2169Pro
XM_017027544.1:c.6505G>C XP_016883033.1:p.Ala2169Pro
XM_017027545.1:c.5941G>C XP_016883034.1:p.Ala1981Pro
XM_017027546.1:c.3469G>C XP_016883035.1:p.Ala1157Pro
NM_014727.3:c.6505G>C MANE Select NP_055542.1:p.Ala2169Pro