Canonical Allele Identifier: CA405427876
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732887T>A , CM000681.2:g.35732887T>A GRCh38
NC_000019.9:g.36223788T>A , CM000681.1:g.36223788T>A GRCh37
NC_000019.8:g.40915628T>A NCBI36
NG_052906.1:g.19869T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.644T>A
ENST00000673918.2:c.6272T>A ENSP00000501283.1:p.Ile2091Asn
ENST00000674114.2:c.3879T>A ENSP00000501039.2:n.3879T>A
ENST00000684977.1:c.1556T>A ENSP00000509384.1:p.Ile519Asn
ENST00000689544.1:n.1491T>A
ENST00000691421.1:c.1559T>A ENSP00000508674.1:p.Ile520Asn
ENST00000691855.1:c.5880T>A
ENST00000692961.1:c.6338T>A ENSP00000509289.1:p.Ile2113Asn
ENST00000693677.1:c.704+558T>A ENSP00000509779.1:n.704+558T>A
ENST00000420124.4:c.6338T>A MANE Select ENSP00000398837.2:p.Ile2113Asn
ENST00000673918.1:c.6272T>A ENSP00000501283.1:p.Ile2091Asn
ENST00000674114.1:c.3660T>A
ENST00000420124.2:c.6338T>A ENSP00000398837.1:p.Ile2113Asn
NM_014727.2:c.6338T>A NP_055542.1:p.Ile2113Asn
XM_011527561.1:c.6272T>A XP_011525863.1:p.Ile2091Asn
XM_011527562.1:c.6338T>A XP_011525864.1:p.Ile2113Asn
XM_011527563.1:c.6062T>A XP_011525865.1:p.Ile2021Asn
XM_011527561.2:c.5774T>A XP_011525863.2:p.Ile1925Asn
XM_011527562.2:c.6338T>A XP_011525864.1:p.Ile2113Asn
XM_017027544.1:c.6338T>A XP_016883033.1:p.Ile2113Asn
XM_017027545.1:c.5774T>A XP_016883034.1:p.Ile1925Asn
XM_017027546.1:c.3302T>A XP_016883035.1:p.Ile1101Asn
NM_014727.3:c.6338T>A MANE Select NP_055542.1:p.Ile2113Asn