Canonical Allele Identifier: CA405424596
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732475G>A , CM000681.2:g.35732475G>A GRCh38
NC_000019.9:g.36223376G>A , CM000681.1:g.36223376G>A GRCh37
NC_000019.8:g.40915216G>A NCBI36
NG_052906.1:g.19457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.232G>A
ENST00000673918.2:c.5860G>A ENSP00000501283.1:p.Asp1954Asn
ENST00000674114.2:c.3467G>A ENSP00000501039.2:n.3467G>A
ENST00000684977.1:c.1144G>A ENSP00000509384.1:p.Asp382Asn
ENST00000689544.1:n.1079G>A
ENST00000691421.1:c.1147G>A ENSP00000508674.1:p.Asp383Asn
ENST00000691855.1:c.5468G>A
ENST00000692961.1:c.5926G>A ENSP00000509289.1:p.Asp1976Asn
ENST00000693677.1:c.704+146G>A ENSP00000509779.1:n.704+146G>A
ENST00000420124.4:c.5926G>A MANE Select ENSP00000398837.2:p.Asp1976Asn
ENST00000673918.1:c.5860G>A ENSP00000501283.1:p.Asp1954Asn
ENST00000674114.1:c.3248G>A
ENST00000420124.2:c.5926G>A ENSP00000398837.1:p.Asp1976Asn
NM_014727.2:c.5926G>A NP_055542.1:p.Asp1976Asn
XM_011527561.1:c.5860G>A XP_011525863.1:p.Asp1954Asn
XM_011527562.1:c.5926G>A XP_011525864.1:p.Asp1976Asn
XM_011527563.1:c.5650G>A XP_011525865.1:p.Asp1884Asn
XM_011527561.2:c.5362G>A XP_011525863.2:p.Asp1788Asn
XM_011527562.2:c.5926G>A XP_011525864.1:p.Asp1976Asn
XM_017027544.1:c.5926G>A XP_016883033.1:p.Asp1976Asn
XM_017027545.1:c.5362G>A XP_016883034.1:p.Asp1788Asn
XM_017027546.1:c.2890G>A XP_016883035.1:p.Asp964Asn
NM_014727.3:c.5926G>A MANE Select NP_055542.1:p.Asp1976Asn