Canonical Allele Identifier: CA405419311
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730101A>T , CM000681.2:g.35730101A>T GRCh38
NC_000019.9:g.36221002A>T , CM000681.1:g.36221002A>T GRCh37
NC_000019.8:g.40912842A>T NCBI36
NG_052906.1:g.17083A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4986A>T ENSP00000501283.1:p.Lys1662Asn
ENST00000674114.2:c.2593A>T ENSP00000501039.2:n.2593A>T
ENST00000684977.1:c.270A>T ENSP00000509384.1:p.Lys90Asn
ENST00000685168.1:c.478A>T
ENST00000689544.1:n.205A>T
ENST00000691421.1:c.273A>T ENSP00000508674.1:p.Lys91Asn
ENST00000691855.1:c.4594A>T
ENST00000692961.1:c.5052A>T ENSP00000509289.1:p.Lys1684Asn
ENST00000420124.4:c.5052A>T MANE Select ENSP00000398837.2:p.Lys1684Asn
ENST00000673918.1:c.4986A>T ENSP00000501283.1:p.Lys1662Asn
ENST00000674114.1:c.2374A>T
ENST00000420124.2:c.5052A>T ENSP00000398837.1:p.Lys1684Asn
NM_014727.2:c.5052A>T NP_055542.1:p.Lys1684Asn
XM_011527561.1:c.4986A>T XP_011525863.1:p.Lys1662Asn
XM_011527562.1:c.5052A>T XP_011525864.1:p.Lys1684Asn
XM_011527563.1:c.4776A>T XP_011525865.1:p.Lys1592Asn
XM_011527561.2:c.4488A>T XP_011525863.2:p.Lys1496Asn
XM_011527562.2:c.5052A>T XP_011525864.1:p.Lys1684Asn
XM_017027544.1:c.5052A>T XP_016883033.1:p.Lys1684Asn
XM_017027545.1:c.4488A>T XP_016883034.1:p.Lys1496Asn
XM_017027546.1:c.2016A>T XP_016883035.1:p.Lys672Asn
NM_014727.3:c.5052A>T MANE Select NP_055542.1:p.Lys1684Asn