Canonical Allele Identifier: CA405418795
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730001T>G , CM000681.2:g.35730001T>G GRCh38
NC_000019.9:g.36220902T>G , CM000681.1:g.36220902T>G GRCh37
NC_000019.8:g.40912742T>G NCBI36
NG_052906.1:g.16983T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4886T>G ENSP00000501283.1:p.Val1629Gly
ENST00000674114.2:c.2493T>G ENSP00000501039.2:n.2493T>G
ENST00000684977.1:c.170T>G ENSP00000509384.1:p.Val57Gly
ENST00000685168.1:c.378T>G
ENST00000689544.1:n.105T>G
ENST00000691421.1:c.173T>G ENSP00000508674.1:p.Val58Gly
ENST00000691855.1:c.4494T>G
ENST00000692961.1:c.4952T>G ENSP00000509289.1:p.Val1651Gly
ENST00000420124.4:c.4952T>G MANE Select ENSP00000398837.2:p.Val1651Gly
ENST00000673918.1:c.4886T>G ENSP00000501283.1:p.Val1629Gly
ENST00000674114.1:c.2274T>G
ENST00000420124.2:c.4952T>G ENSP00000398837.1:p.Val1651Gly
NM_014727.2:c.4952T>G NP_055542.1:p.Val1651Gly
XM_011527561.1:c.4886T>G XP_011525863.1:p.Val1629Gly
XM_011527562.1:c.4952T>G XP_011525864.1:p.Val1651Gly
XM_011527563.1:c.4676T>G XP_011525865.1:p.Val1559Gly
XM_011527561.2:c.4388T>G XP_011525863.2:p.Val1463Gly
XM_011527562.2:c.4952T>G XP_011525864.1:p.Val1651Gly
XM_017027544.1:c.4952T>G XP_016883033.1:p.Val1651Gly
XM_017027545.1:c.4388T>G XP_016883034.1:p.Val1463Gly
XM_017027546.1:c.1916T>G XP_016883035.1:p.Val639Gly
NM_014727.3:c.4952T>G MANE Select NP_055542.1:p.Val1651Gly