Canonical Allele Identifier: CA405419295
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730095C>A , CM000681.2:g.35730095C>A GRCh38
NC_000019.9:g.36220996C>A , CM000681.1:g.36220996C>A GRCh37
NC_000019.8:g.40912836C>A NCBI36
NG_052906.1:g.17077C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4980C>A ENSP00000501283.1:p.Cys1660Ter
ENST00000674114.2:c.2587C>A ENSP00000501039.2:n.2587C>A
ENST00000684977.1:c.264C>A ENSP00000509384.1:p.Cys88Ter
ENST00000685168.1:c.472C>A
ENST00000689544.1:n.199C>A
ENST00000691421.1:c.267C>A ENSP00000508674.1:p.Cys89Ter
ENST00000691855.1:c.4588C>A
ENST00000692961.1:c.5046C>A ENSP00000509289.1:p.Cys1682Ter
ENST00000420124.4:c.5046C>A MANE Select ENSP00000398837.2:p.Cys1682Ter
ENST00000673918.1:c.4980C>A ENSP00000501283.1:p.Cys1660Ter
ENST00000674114.1:c.2368C>A
ENST00000420124.2:c.5046C>A ENSP00000398837.1:p.Cys1682Ter
NM_014727.2:c.5046C>A NP_055542.1:p.Cys1682Ter
XM_011527561.1:c.4980C>A XP_011525863.1:p.Cys1660Ter
XM_011527562.1:c.5046C>A XP_011525864.1:p.Cys1682Ter
XM_011527563.1:c.4770C>A XP_011525865.1:p.Cys1590Ter
XM_011527561.2:c.4482C>A XP_011525863.2:p.Cys1494Ter
XM_011527562.2:c.5046C>A XP_011525864.1:p.Cys1682Ter
XM_017027544.1:c.5046C>A XP_016883033.1:p.Cys1682Ter
XM_017027545.1:c.4482C>A XP_016883034.1:p.Cys1494Ter
XM_017027546.1:c.2010C>A XP_016883035.1:p.Cys670Ter
NM_014727.3:c.5046C>A MANE Select NP_055542.1:p.Cys1682Ter