Canonical Allele Identifier: CA405432098
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733836G>A , CM000681.2:g.35733836G>A GRCh38
NC_000019.9:g.36224737G>A , CM000681.1:g.36224737G>A GRCh37
NC_000019.8:g.40916577G>A NCBI36
NG_052906.1:g.20818G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.1593G>A
ENST00000673918.2:c.7057G>A ENSP00000501283.1:p.Asp2353Asn
ENST00000674114.2:c.4664G>A ENSP00000501039.2:n.4664G>A
ENST00000684977.1:c.2318G>A ENSP00000509384.1:n.2318G>A
ENST00000689544.1:n.2364G>A
ENST00000689929.1:c.74G>A
ENST00000691421.1:c.2254G>A ENSP00000508674.1:p.Asp752Asn
ENST00000691855.1:c.6665G>A
ENST00000692961.1:c.7047G>A ENSP00000509289.1:p.Gln2349=
ENST00000693175.1:c.74G>A
ENST00000693677.1:c.868G>A ENSP00000509779.1:p.Asp290Asn
ENST00000420124.4:c.7123G>A MANE Select ENSP00000398837.2:p.Asp2375Asn
ENST00000673918.1:c.7057G>A ENSP00000501283.1:p.Asp2353Asn
ENST00000674114.1:c.4445G>A
ENST00000420124.2:c.7123G>A ENSP00000398837.1:p.Asp2375Asn
ENST00000592092.1:n.503G>A
NM_014727.2:c.7123G>A NP_055542.1:p.Asp2375Asn
XM_011527561.1:c.7057G>A XP_011525863.1:p.Asp2353Asn
XM_011527562.1:c.7123G>A XP_011525864.1:p.Asp2375Asn
XM_011527563.1:c.6847G>A XP_011525865.1:p.Asp2283Asn
XM_011527561.2:c.6559G>A XP_011525863.2:p.Asp2187Asn
XM_011527562.2:c.7123G>A XP_011525864.1:p.Asp2375Asn
XM_017027544.1:c.7033G>A XP_016883033.1:p.Asp2345Asn
XM_017027545.1:c.6559G>A XP_016883034.1:p.Asp2187Asn
XM_017027546.1:c.4087G>A XP_016883035.1:p.Asp1363Asn
NM_014727.3:c.7123G>A MANE Select NP_055542.1:p.Asp2375Asn