Canonical Allele Identifier: CA405419299
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730096C>T , CM000681.2:g.35730096C>T GRCh38
NC_000019.9:g.36220997C>T , CM000681.1:g.36220997C>T GRCh37
NC_000019.8:g.40912837C>T NCBI36
NG_052906.1:g.17078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4981C>T ENSP00000501283.1:p.Gln1661Ter
ENST00000674114.2:c.2588C>T ENSP00000501039.2:n.2588C>T
ENST00000684977.1:c.265C>T ENSP00000509384.1:p.Gln89Ter
ENST00000685168.1:c.473C>T
ENST00000689544.1:n.200C>T
ENST00000691421.1:c.268C>T ENSP00000508674.1:p.Gln90Ter
ENST00000691855.1:c.4589C>T
ENST00000692961.1:c.5047C>T ENSP00000509289.1:p.Gln1683Ter
ENST00000420124.4:c.5047C>T MANE Select ENSP00000398837.2:p.Gln1683Ter
ENST00000673918.1:c.4981C>T ENSP00000501283.1:p.Gln1661Ter
ENST00000674114.1:c.2369C>T
ENST00000420124.2:c.5047C>T ENSP00000398837.1:p.Gln1683Ter
NM_014727.2:c.5047C>T NP_055542.1:p.Gln1683Ter
XM_011527561.1:c.4981C>T XP_011525863.1:p.Gln1661Ter
XM_011527562.1:c.5047C>T XP_011525864.1:p.Gln1683Ter
XM_011527563.1:c.4771C>T XP_011525865.1:p.Gln1591Ter
XM_011527561.2:c.4483C>T XP_011525863.2:p.Gln1495Ter
XM_011527562.2:c.5047C>T XP_011525864.1:p.Gln1683Ter
XM_017027544.1:c.5047C>T XP_016883033.1:p.Gln1683Ter
XM_017027545.1:c.4483C>T XP_016883034.1:p.Gln1495Ter
XM_017027546.1:c.2011C>T XP_016883035.1:p.Gln671Ter
NM_014727.3:c.5047C>T MANE Select NP_055542.1:p.Gln1683Ter