Canonical Allele Identifier: CA405419049
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730054G>T , CM000681.2:g.35730054G>T GRCh38
NC_000019.9:g.36220955G>T , CM000681.1:g.36220955G>T GRCh37
NC_000019.8:g.40912795G>T NCBI36
NG_052906.1:g.17036G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4939G>T ENSP00000501283.1:p.Ala1647Ser
ENST00000674114.2:c.2546G>T ENSP00000501039.2:n.2546G>T
ENST00000684977.1:c.223G>T ENSP00000509384.1:p.Ala75Ser
ENST00000685168.1:c.431G>T
ENST00000689544.1:n.158G>T
ENST00000691421.1:c.226G>T ENSP00000508674.1:p.Ala76Ser
ENST00000691855.1:c.4547G>T
ENST00000692961.1:c.5005G>T ENSP00000509289.1:p.Ala1669Ser
ENST00000420124.4:c.5005G>T MANE Select ENSP00000398837.2:p.Ala1669Ser
ENST00000673918.1:c.4939G>T ENSP00000501283.1:p.Ala1647Ser
ENST00000674114.1:c.2327G>T
ENST00000420124.2:c.5005G>T ENSP00000398837.1:p.Ala1669Ser
NM_014727.2:c.5005G>T NP_055542.1:p.Ala1669Ser
XM_011527561.1:c.4939G>T XP_011525863.1:p.Ala1647Ser
XM_011527562.1:c.5005G>T XP_011525864.1:p.Ala1669Ser
XM_011527563.1:c.4729G>T XP_011525865.1:p.Ala1577Ser
XM_011527561.2:c.4441G>T XP_011525863.2:p.Ala1481Ser
XM_011527562.2:c.5005G>T XP_011525864.1:p.Ala1669Ser
XM_017027544.1:c.5005G>T XP_016883033.1:p.Ala1669Ser
XM_017027545.1:c.4441G>T XP_016883034.1:p.Ala1481Ser
XM_017027546.1:c.1969G>T XP_016883035.1:p.Ala657Ser
NM_014727.3:c.5005G>T MANE Select NP_055542.1:p.Ala1669Ser