Canonical Allele Identifier: CA405428709
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733021G>A , CM000681.2:g.35733021G>A GRCh38
NC_000019.9:g.36223922G>A , CM000681.1:g.36223922G>A GRCh37
NC_000019.8:g.40915762G>A NCBI36
NG_052906.1:g.20003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.778G>A
ENST00000673918.2:c.6406G>A ENSP00000501283.1:p.Asp2136Asn
ENST00000674114.2:c.4013G>A ENSP00000501039.2:n.4013G>A
ENST00000684977.1:c.1690G>A ENSP00000509384.1:p.Asp564Asn
ENST00000689544.1:n.1625G>A
ENST00000691421.1:c.1693G>A ENSP00000508674.1:p.Asp565Asn
ENST00000691855.1:c.6014G>A
ENST00000692961.1:c.6472G>A ENSP00000509289.1:p.Asp2158Asn
ENST00000693677.1:c.705-576G>A ENSP00000509779.1:n.705-576G>A
ENST00000420124.4:c.6472G>A MANE Select ENSP00000398837.2:p.Asp2158Asn
ENST00000673918.1:c.6406G>A ENSP00000501283.1:p.Asp2136Asn
ENST00000674114.1:c.3794G>A
ENST00000420124.2:c.6472G>A ENSP00000398837.1:p.Asp2158Asn
NM_014727.2:c.6472G>A NP_055542.1:p.Asp2158Asn
XM_011527561.1:c.6406G>A XP_011525863.1:p.Asp2136Asn
XM_011527562.1:c.6472G>A XP_011525864.1:p.Asp2158Asn
XM_011527563.1:c.6196G>A XP_011525865.1:p.Asp2066Asn
XM_011527561.2:c.5908G>A XP_011525863.2:p.Asp1970Asn
XM_011527562.2:c.6472G>A XP_011525864.1:p.Asp2158Asn
XM_017027544.1:c.6472G>A XP_016883033.1:p.Asp2158Asn
XM_017027545.1:c.5908G>A XP_016883034.1:p.Asp1970Asn
XM_017027546.1:c.3436G>A XP_016883035.1:p.Asp1146Asn
NM_014727.3:c.6472G>A MANE Select NP_055542.1:p.Asp2158Asn