Canonical Allele Identifier: CA405418845
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730011C>G , CM000681.2:g.35730011C>G GRCh38
NC_000019.9:g.36220912C>G , CM000681.1:g.36220912C>G GRCh37
NC_000019.8:g.40912752C>G NCBI36
NG_052906.1:g.16993C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4896C>G ENSP00000501283.1:p.Cys1632Trp
ENST00000674114.2:c.2503C>G ENSP00000501039.2:n.2503C>G
ENST00000684977.1:c.180C>G ENSP00000509384.1:p.Cys60Trp
ENST00000685168.1:c.388C>G
ENST00000689544.1:n.115C>G
ENST00000691421.1:c.183C>G ENSP00000508674.1:p.Cys61Trp
ENST00000691855.1:c.4504C>G
ENST00000692961.1:c.4962C>G ENSP00000509289.1:p.Cys1654Trp
ENST00000420124.4:c.4962C>G MANE Select ENSP00000398837.2:p.Cys1654Trp
ENST00000673918.1:c.4896C>G ENSP00000501283.1:p.Cys1632Trp
ENST00000674114.1:c.2284C>G
ENST00000420124.2:c.4962C>G ENSP00000398837.1:p.Cys1654Trp
NM_014727.2:c.4962C>G NP_055542.1:p.Cys1654Trp
XM_011527561.1:c.4896C>G XP_011525863.1:p.Cys1632Trp
XM_011527562.1:c.4962C>G XP_011525864.1:p.Cys1654Trp
XM_011527563.1:c.4686C>G XP_011525865.1:p.Cys1562Trp
XM_011527561.2:c.4398C>G XP_011525863.2:p.Cys1466Trp
XM_011527562.2:c.4962C>G XP_011525864.1:p.Cys1654Trp
XM_017027544.1:c.4962C>G XP_016883033.1:p.Cys1654Trp
XM_017027545.1:c.4398C>G XP_016883034.1:p.Cys1466Trp
XM_017027546.1:c.1926C>G XP_016883035.1:p.Cys642Trp
NM_014727.3:c.4962C>G MANE Select NP_055542.1:p.Cys1654Trp