Canonical Allele Identifier: CA405418900
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730023C>A , CM000681.2:g.35730023C>A GRCh38
NC_000019.9:g.36220924C>A , CM000681.1:g.36220924C>A GRCh37
NC_000019.8:g.40912764C>A NCBI36
NG_052906.1:g.17005C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4908C>A ENSP00000501283.1:p.Cys1636Ter
ENST00000674114.2:c.2515C>A ENSP00000501039.2:n.2515C>A
ENST00000684977.1:c.192C>A ENSP00000509384.1:p.Cys64Ter
ENST00000685168.1:c.400C>A
ENST00000689544.1:n.127C>A
ENST00000691421.1:c.195C>A ENSP00000508674.1:p.Cys65Ter
ENST00000691855.1:c.4516C>A
ENST00000692961.1:c.4974C>A ENSP00000509289.1:p.Cys1658Ter
ENST00000420124.4:c.4974C>A MANE Select ENSP00000398837.2:p.Cys1658Ter
ENST00000673918.1:c.4908C>A ENSP00000501283.1:p.Cys1636Ter
ENST00000674114.1:c.2296C>A
ENST00000420124.2:c.4974C>A ENSP00000398837.1:p.Cys1658Ter
NM_014727.2:c.4974C>A NP_055542.1:p.Cys1658Ter
XM_011527561.1:c.4908C>A XP_011525863.1:p.Cys1636Ter
XM_011527562.1:c.4974C>A XP_011525864.1:p.Cys1658Ter
XM_011527563.1:c.4698C>A XP_011525865.1:p.Cys1566Ter
XM_011527561.2:c.4410C>A XP_011525863.2:p.Cys1470Ter
XM_011527562.2:c.4974C>A XP_011525864.1:p.Cys1658Ter
XM_017027544.1:c.4974C>A XP_016883033.1:p.Cys1658Ter
XM_017027545.1:c.4410C>A XP_016883034.1:p.Cys1470Ter
XM_017027546.1:c.1938C>A XP_016883035.1:p.Cys646Ter
NM_014727.3:c.4974C>A MANE Select NP_055542.1:p.Cys1658Ter