Canonical Allele Identifier: CA16043946
Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 374870
ClinVar RCV Id: RCV000415586
dbSNP Id: rs1057519278

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732955del , CM000681.2:g.35732955del GRCh38
NC_000019.9:g.36223856del , CM000681.1:g.36223856del GRCh37
NC_000019.8:g.40915696del NCBI36
NG_052906.1:g.19937del

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.712del
ENST00000673918.2:c.6340del ENSP00000501283.1:p.Leu2114SerfsTer17
ENST00000674114.2:c.3947del ENSP00000501039.2:n.3947del
ENST00000684977.1:c.1624del ENSP00000509384.1:p.Leu542SerfsTer17
ENST00000689544.1:n.1559del
ENST00000691421.1:c.1627del ENSP00000508674.1:p.Leu543SerfsTer17
ENST00000691855.1:c.5948del
ENST00000692961.1:c.6406del ENSP00000509289.1:p.Leu2136SerfsTer17
ENST00000693677.1:c.704+626del ENSP00000509779.1:n.704+626del
ENST00000420124.4:c.6406del MANE Select ENSP00000398837.2:p.Leu2136SerfsTer17
ENST00000673918.1:c.6340del ENSP00000501283.1:p.Leu2114SerfsTer17
ENST00000674114.1:c.3728del
ENST00000420124.2:c.6406del ENSP00000398837.1:p.Leu2136SerfsTer17
NM_014727.2:c.6406del NP_055542.1:p.Leu2136SerfsTer17
XM_011527561.1:c.6340del XP_011525863.1:p.Leu2114SerfsTer17
XM_011527562.1:c.6406del XP_011525864.1:p.Leu2136SerfsTer17
XM_011527563.1:c.6130del XP_011525865.1:p.Leu2044SerfsTer17
XM_011527561.2:c.5842del XP_011525863.2:p.Leu1948SerfsTer17
XM_011527562.2:c.6406del XP_011525864.1:p.Leu2136SerfsTer17
XM_017027544.1:c.6406del XP_016883033.1:p.Leu2136SerfsTer17
XM_017027545.1:c.5842del XP_016883034.1:p.Leu1948SerfsTer17
XM_017027546.1:c.3370del XP_016883035.1:p.Leu1124SerfsTer17
NM_014727.3:c.6406del MANE Select NP_055542.1:p.Leu2136SerfsTer17