Canonical Allele Identifier: CA405419016
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730046G>A , CM000681.2:g.35730046G>A GRCh38
NC_000019.9:g.36220947G>A , CM000681.1:g.36220947G>A GRCh37
NC_000019.8:g.40912787G>A NCBI36
NG_052906.1:g.17028G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.4931G>A ENSP00000501283.1:p.Cys1644Tyr
ENST00000674114.2:c.2538G>A ENSP00000501039.2:n.2538G>A
ENST00000684977.1:c.215G>A ENSP00000509384.1:p.Cys72Tyr
ENST00000685168.1:c.423G>A
ENST00000689544.1:n.150G>A
ENST00000691421.1:c.218G>A ENSP00000508674.1:p.Cys73Tyr
ENST00000691855.1:c.4539G>A
ENST00000692961.1:c.4997G>A ENSP00000509289.1:p.Cys1666Tyr
ENST00000420124.4:c.4997G>A MANE Select ENSP00000398837.2:p.Cys1666Tyr
ENST00000673918.1:c.4931G>A ENSP00000501283.1:p.Cys1644Tyr
ENST00000674114.1:c.2319G>A
ENST00000420124.2:c.4997G>A ENSP00000398837.1:p.Cys1666Tyr
NM_014727.2:c.4997G>A NP_055542.1:p.Cys1666Tyr
XM_011527561.1:c.4931G>A XP_011525863.1:p.Cys1644Tyr
XM_011527562.1:c.4997G>A XP_011525864.1:p.Cys1666Tyr
XM_011527563.1:c.4721G>A XP_011525865.1:p.Cys1574Tyr
XM_011527561.2:c.4433G>A XP_011525863.2:p.Cys1478Tyr
XM_011527562.2:c.4997G>A XP_011525864.1:p.Cys1666Tyr
XM_017027544.1:c.4997G>A XP_016883033.1:p.Cys1666Tyr
XM_017027545.1:c.4433G>A XP_016883034.1:p.Cys1478Tyr
XM_017027546.1:c.1961G>A XP_016883035.1:p.Cys654Tyr
NM_014727.3:c.4997G>A MANE Select NP_055542.1:p.Cys1666Tyr