Canonical Allele Identifier: CA405418954
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730036C>A , CM000681.2:g.35730036C>A GRCh38
NC_000019.9:g.36220937C>A , CM000681.1:g.36220937C>A GRCh37
NC_000019.8:g.40912777C>A NCBI36
NG_052906.1:g.17018C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4921C>A ENSP00000501283.1:p.His1641Asn
ENST00000674114.2:c.2528C>A ENSP00000501039.2:n.2528C>A
ENST00000684977.1:c.205C>A ENSP00000509384.1:p.His69Asn
ENST00000685168.1:c.413C>A
ENST00000689544.1:n.140C>A
ENST00000691421.1:c.208C>A ENSP00000508674.1:p.His70Asn
ENST00000691855.1:c.4529C>A
ENST00000692961.1:c.4987C>A ENSP00000509289.1:p.His1663Asn
ENST00000420124.4:c.4987C>A MANE Select ENSP00000398837.2:p.His1663Asn
ENST00000673918.1:c.4921C>A ENSP00000501283.1:p.His1641Asn
ENST00000674114.1:c.2309C>A
ENST00000420124.2:c.4987C>A ENSP00000398837.1:p.His1663Asn
NM_014727.2:c.4987C>A NP_055542.1:p.His1663Asn
XM_011527561.1:c.4921C>A XP_011525863.1:p.His1641Asn
XM_011527562.1:c.4987C>A XP_011525864.1:p.His1663Asn
XM_011527563.1:c.4711C>A XP_011525865.1:p.His1571Asn
XM_011527561.2:c.4423C>A XP_011525863.2:p.His1475Asn
XM_011527562.2:c.4987C>A XP_011525864.1:p.His1663Asn
XM_017027544.1:c.4987C>A XP_016883033.1:p.His1663Asn
XM_017027545.1:c.4423C>A XP_016883034.1:p.His1475Asn
XM_017027546.1:c.1951C>A XP_016883035.1:p.His651Asn
NM_014727.3:c.4987C>A MANE Select NP_055542.1:p.His1663Asn