Canonical Allele Identifier: CA405428770
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733028C>G , CM000681.2:g.35733028C>G GRCh38
NC_000019.9:g.36223929C>G , CM000681.1:g.36223929C>G GRCh37
NC_000019.8:g.40915769C>G NCBI36
NG_052906.1:g.20010C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.785C>G
ENST00000673918.2:c.6413C>G ENSP00000501283.1:p.Thr2138Ser
ENST00000674114.2:c.4020C>G ENSP00000501039.2:n.4020C>G
ENST00000684977.1:c.1697C>G ENSP00000509384.1:p.Thr566Ser
ENST00000689544.1:n.1632C>G
ENST00000691421.1:c.1700C>G ENSP00000508674.1:p.Thr567Ser
ENST00000691855.1:c.6021C>G
ENST00000692961.1:c.6479C>G ENSP00000509289.1:p.Thr2160Ser
ENST00000693677.1:c.705-569C>G ENSP00000509779.1:n.705-569C>G
ENST00000420124.4:c.6479C>G MANE Select ENSP00000398837.2:p.Thr2160Ser
ENST00000673918.1:c.6413C>G ENSP00000501283.1:p.Thr2138Ser
ENST00000674114.1:c.3801C>G
ENST00000420124.2:c.6479C>G ENSP00000398837.1:p.Thr2160Ser
NM_014727.2:c.6479C>G NP_055542.1:p.Thr2160Ser
XM_011527561.1:c.6413C>G XP_011525863.1:p.Thr2138Ser
XM_011527562.1:c.6479C>G XP_011525864.1:p.Thr2160Ser
XM_011527563.1:c.6203C>G XP_011525865.1:p.Thr2068Ser
XM_011527561.2:c.5915C>G XP_011525863.2:p.Thr1972Ser
XM_011527562.2:c.6479C>G XP_011525864.1:p.Thr2160Ser
XM_017027544.1:c.6479C>G XP_016883033.1:p.Thr2160Ser
XM_017027545.1:c.5915C>G XP_016883034.1:p.Thr1972Ser
XM_017027546.1:c.3443C>G XP_016883035.1:p.Thr1148Ser
NM_014727.3:c.6479C>G MANE Select NP_055542.1:p.Thr2160Ser