Canonical Allele Identifier: CA405428085
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732919C>G , CM000681.2:g.35732919C>G GRCh38
NC_000019.9:g.36223820C>G , CM000681.1:g.36223820C>G GRCh37
NC_000019.8:g.40915660C>G NCBI36
NG_052906.1:g.19901C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.676C>G
ENST00000673918.2:c.6304C>G ENSP00000501283.1:p.Pro2102Ala
ENST00000674114.2:c.3911C>G ENSP00000501039.2:n.3911C>G
ENST00000684977.1:c.1588C>G ENSP00000509384.1:p.Pro530Ala
ENST00000689544.1:n.1523C>G
ENST00000691421.1:c.1591C>G ENSP00000508674.1:p.Pro531Ala
ENST00000691855.1:c.5912C>G
ENST00000692961.1:c.6370C>G ENSP00000509289.1:p.Pro2124Ala
ENST00000693677.1:c.704+590C>G ENSP00000509779.1:n.704+590C>G
ENST00000420124.4:c.6370C>G MANE Select ENSP00000398837.2:p.Pro2124Ala
ENST00000673918.1:c.6304C>G ENSP00000501283.1:p.Pro2102Ala
ENST00000674114.1:c.3692C>G
ENST00000420124.2:c.6370C>G ENSP00000398837.1:p.Pro2124Ala
NM_014727.2:c.6370C>G NP_055542.1:p.Pro2124Ala
XM_011527561.1:c.6304C>G XP_011525863.1:p.Pro2102Ala
XM_011527562.1:c.6370C>G XP_011525864.1:p.Pro2124Ala
XM_011527563.1:c.6094C>G XP_011525865.1:p.Pro2032Ala
XM_011527561.2:c.5806C>G XP_011525863.2:p.Pro1936Ala
XM_011527562.2:c.6370C>G XP_011525864.1:p.Pro2124Ala
XM_017027544.1:c.6370C>G XP_016883033.1:p.Pro2124Ala
XM_017027545.1:c.5806C>G XP_016883034.1:p.Pro1936Ala
XM_017027546.1:c.3334C>G XP_016883035.1:p.Pro1112Ala
NM_014727.3:c.6370C>G MANE Select NP_055542.1:p.Pro2124Ala