Canonical Allele Identifier: CA405418764
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729995C>G , CM000681.2:g.35729995C>G GRCh38
NC_000019.9:g.36220896C>G , CM000681.1:g.36220896C>G GRCh37
NC_000019.8:g.40912736C>G NCBI36
NG_052906.1:g.16977C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4880C>G ENSP00000501283.1:p.Ala1627Gly
ENST00000674114.2:c.2487C>G ENSP00000501039.2:n.2487C>G
ENST00000684977.1:c.164C>G ENSP00000509384.1:p.Ala55Gly
ENST00000685168.1:c.372C>G
ENST00000689544.1:n.99C>G
ENST00000691421.1:c.167C>G ENSP00000508674.1:p.Ala56Gly
ENST00000691855.1:c.4488C>G
ENST00000692961.1:c.4946C>G ENSP00000509289.1:p.Ala1649Gly
ENST00000420124.4:c.4946C>G MANE Select ENSP00000398837.2:p.Ala1649Gly
ENST00000673918.1:c.4880C>G ENSP00000501283.1:p.Ala1627Gly
ENST00000674114.1:c.2268C>G
ENST00000420124.2:c.4946C>G ENSP00000398837.1:p.Ala1649Gly
NM_014727.2:c.4946C>G NP_055542.1:p.Ala1649Gly
XM_011527561.1:c.4880C>G XP_011525863.1:p.Ala1627Gly
XM_011527562.1:c.4946C>G XP_011525864.1:p.Ala1649Gly
XM_011527563.1:c.4670C>G XP_011525865.1:p.Ala1557Gly
XM_011527561.2:c.4382C>G XP_011525863.2:p.Ala1461Gly
XM_011527562.2:c.4946C>G XP_011525864.1:p.Ala1649Gly
XM_017027544.1:c.4946C>G XP_016883033.1:p.Ala1649Gly
XM_017027545.1:c.4382C>G XP_016883034.1:p.Ala1461Gly
XM_017027546.1:c.1910C>G XP_016883035.1:p.Ala637Gly
NM_014727.3:c.4946C>G MANE Select NP_055542.1:p.Ala1649Gly