Canonical Allele Identifier: CA405425713
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732661C>G , CM000681.2:g.35732661C>G GRCh38
NC_000019.9:g.36223562C>G , CM000681.1:g.36223562C>G GRCh37
NC_000019.8:g.40915402C>G NCBI36
NG_052906.1:g.19643C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.418C>G
ENST00000673918.2:c.6046C>G ENSP00000501283.1:p.Pro2016Ala
ENST00000674114.2:c.3653C>G ENSP00000501039.2:n.3653C>G
ENST00000684977.1:c.1330C>G ENSP00000509384.1:p.Pro444Ala
ENST00000689544.1:n.1265C>G
ENST00000691421.1:c.1333C>G ENSP00000508674.1:p.Pro445Ala
ENST00000691855.1:c.5654C>G
ENST00000692961.1:c.6112C>G ENSP00000509289.1:p.Pro2038Ala
ENST00000693677.1:c.704+332C>G ENSP00000509779.1:n.704+332C>G
ENST00000420124.4:c.6112C>G MANE Select ENSP00000398837.2:p.Pro2038Ala
ENST00000673918.1:c.6046C>G ENSP00000501283.1:p.Pro2016Ala
ENST00000674114.1:c.3434C>G
ENST00000420124.2:c.6112C>G ENSP00000398837.1:p.Pro2038Ala
NM_014727.2:c.6112C>G NP_055542.1:p.Pro2038Ala
XM_011527561.1:c.6046C>G XP_011525863.1:p.Pro2016Ala
XM_011527562.1:c.6112C>G XP_011525864.1:p.Pro2038Ala
XM_011527563.1:c.5836C>G XP_011525865.1:p.Pro1946Ala
XM_011527561.2:c.5548C>G XP_011525863.2:p.Pro1850Ala
XM_011527562.2:c.6112C>G XP_011525864.1:p.Pro2038Ala
XM_017027544.1:c.6112C>G XP_016883033.1:p.Pro2038Ala
XM_017027545.1:c.5548C>G XP_016883034.1:p.Pro1850Ala
XM_017027546.1:c.3076C>G XP_016883035.1:p.Pro1026Ala
NM_014727.3:c.6112C>G MANE Select NP_055542.1:p.Pro2038Ala