Canonical Allele Identifier: CA507072649
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36220957C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730056C>G , CM000681.2:g.35730056C>G GRCh38
NC_000019.9:g.36220957C>G , CM000681.1:g.36220957C>G GRCh37
NC_000019.8:g.40912797C>G NCBI36
NG_052906.1:g.17038C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4941C>G ENSP00000501283.1:p.Ala1647=
ENST00000674114.2:c.2548C>G ENSP00000501039.2:n.2548C>G
ENST00000684977.1:c.225C>G ENSP00000509384.1:p.Ala75=
ENST00000685168.1:c.433C>G
ENST00000689544.1:n.160C>G
ENST00000691421.1:c.228C>G ENSP00000508674.1:p.Ala76=
ENST00000691855.1:c.4549C>G
ENST00000692961.1:c.5007C>G ENSP00000509289.1:p.Ala1669=
ENST00000420124.4:c.5007C>G MANE Select ENSP00000398837.2:p.Ala1669=
ENST00000673918.1:c.4941C>G ENSP00000501283.1:p.Ala1647=
ENST00000674114.1:c.2329C>G
ENST00000420124.2:c.5007C>G ENSP00000398837.1:p.Ala1669=
NM_014727.2:c.5007C>G NP_055542.1:p.Ala1669=
XM_011527561.1:c.4941C>G XP_011525863.1:p.Ala1647=
XM_011527562.1:c.5007C>G XP_011525864.1:p.Ala1669=
XM_011527563.1:c.4731C>G XP_011525865.1:p.Ala1577=
XM_011527561.2:c.4443C>G XP_011525863.2:p.Ala1481=
XM_011527562.2:c.5007C>G XP_011525864.1:p.Ala1669=
XM_017027544.1:c.5007C>G XP_016883033.1:p.Ala1669=
XM_017027545.1:c.4443C>G XP_016883034.1:p.Ala1481=
XM_017027546.1:c.1971C>G XP_016883035.1:p.Ala657=
NM_014727.3:c.5007C>G MANE Select NP_055542.1:p.Ala1669=