Canonical Allele Identifier: CA405427362
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732806C>G , CM000681.2:g.35732806C>G GRCh38
NC_000019.9:g.36223707C>G , CM000681.1:g.36223707C>G GRCh37
NC_000019.8:g.40915547C>G NCBI36
NG_052906.1:g.19788C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.563C>G
ENST00000673918.2:c.6191C>G ENSP00000501283.1:p.Ser2064Trp
ENST00000674114.2:c.3798C>G ENSP00000501039.2:n.3798C>G
ENST00000684977.1:c.1475C>G ENSP00000509384.1:p.Ser492Trp
ENST00000689544.1:n.1410C>G
ENST00000691421.1:c.1478C>G ENSP00000508674.1:p.Ser493Trp
ENST00000691855.1:c.5799C>G
ENST00000692961.1:c.6257C>G ENSP00000509289.1:p.Ser2086Trp
ENST00000693677.1:c.704+477C>G ENSP00000509779.1:n.704+477C>G
ENST00000420124.4:c.6257C>G MANE Select ENSP00000398837.2:p.Ser2086Trp
ENST00000673918.1:c.6191C>G ENSP00000501283.1:p.Ser2064Trp
ENST00000674114.1:c.3579C>G
ENST00000420124.2:c.6257C>G ENSP00000398837.1:p.Ser2086Trp
NM_014727.2:c.6257C>G NP_055542.1:p.Ser2086Trp
XM_011527561.1:c.6191C>G XP_011525863.1:p.Ser2064Trp
XM_011527562.1:c.6257C>G XP_011525864.1:p.Ser2086Trp
XM_011527563.1:c.5981C>G XP_011525865.1:p.Ser1994Trp
XM_011527561.2:c.5693C>G XP_011525863.2:p.Ser1898Trp
XM_011527562.2:c.6257C>G XP_011525864.1:p.Ser2086Trp
XM_017027544.1:c.6257C>G XP_016883033.1:p.Ser2086Trp
XM_017027545.1:c.5693C>G XP_016883034.1:p.Ser1898Trp
XM_017027546.1:c.3221C>G XP_016883035.1:p.Ser1074Trp
NM_014727.3:c.6257C>G MANE Select NP_055542.1:p.Ser2086Trp