Canonical Allele Identifier: CA405428214
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732940C>G , CM000681.2:g.35732940C>G GRCh38
NC_000019.9:g.36223841C>G , CM000681.1:g.36223841C>G GRCh37
NC_000019.8:g.40915681C>G NCBI36
NG_052906.1:g.19922C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.697C>G
ENST00000673918.2:c.6325C>G ENSP00000501283.1:p.Pro2109Ala
ENST00000674114.2:c.3932C>G ENSP00000501039.2:n.3932C>G
ENST00000684977.1:c.1609C>G ENSP00000509384.1:p.Pro537Ala
ENST00000689544.1:n.1544C>G
ENST00000691421.1:c.1612C>G ENSP00000508674.1:p.Pro538Ala
ENST00000691855.1:c.5933C>G
ENST00000692961.1:c.6391C>G ENSP00000509289.1:p.Pro2131Ala
ENST00000693677.1:c.704+611C>G ENSP00000509779.1:n.704+611C>G
ENST00000420124.4:c.6391C>G MANE Select ENSP00000398837.2:p.Pro2131Ala
ENST00000673918.1:c.6325C>G ENSP00000501283.1:p.Pro2109Ala
ENST00000674114.1:c.3713C>G
ENST00000420124.2:c.6391C>G ENSP00000398837.1:p.Pro2131Ala
NM_014727.2:c.6391C>G NP_055542.1:p.Pro2131Ala
XM_011527561.1:c.6325C>G XP_011525863.1:p.Pro2109Ala
XM_011527562.1:c.6391C>G XP_011525864.1:p.Pro2131Ala
XM_011527563.1:c.6115C>G XP_011525865.1:p.Pro2039Ala
XM_011527561.2:c.5827C>G XP_011525863.2:p.Pro1943Ala
XM_011527562.2:c.6391C>G XP_011525864.1:p.Pro2131Ala
XM_017027544.1:c.6391C>G XP_016883033.1:p.Pro2131Ala
XM_017027545.1:c.5827C>G XP_016883034.1:p.Pro1943Ala
XM_017027546.1:c.3355C>G XP_016883035.1:p.Pro1119Ala
NM_014727.3:c.6391C>G MANE Select NP_055542.1:p.Pro2131Ala