Canonical Allele Identifier: CA405424461
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732451C>G , CM000681.2:g.35732451C>G GRCh38
NC_000019.9:g.36223352C>G , CM000681.1:g.36223352C>G GRCh37
NC_000019.8:g.40915192C>G NCBI36
NG_052906.1:g.19433C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.208C>G
ENST00000673918.2:c.5836C>G ENSP00000501283.1:p.Pro1946Ala
ENST00000674114.2:c.3443C>G ENSP00000501039.2:n.3443C>G
ENST00000684977.1:c.1120C>G ENSP00000509384.1:p.Pro374Ala
ENST00000689544.1:n.1055C>G
ENST00000691421.1:c.1123C>G ENSP00000508674.1:p.Pro375Ala
ENST00000691855.1:c.5444C>G
ENST00000692961.1:c.5902C>G ENSP00000509289.1:p.Pro1968Ala
ENST00000693677.1:c.704+122C>G ENSP00000509779.1:n.704+122C>G
ENST00000420124.4:c.5902C>G MANE Select ENSP00000398837.2:p.Pro1968Ala
ENST00000673918.1:c.5836C>G ENSP00000501283.1:p.Pro1946Ala
ENST00000674114.1:c.3224C>G
ENST00000420124.2:c.5902C>G ENSP00000398837.1:p.Pro1968Ala
NM_014727.2:c.5902C>G NP_055542.1:p.Pro1968Ala
XM_011527561.1:c.5836C>G XP_011525863.1:p.Pro1946Ala
XM_011527562.1:c.5902C>G XP_011525864.1:p.Pro1968Ala
XM_011527563.1:c.5626C>G XP_011525865.1:p.Pro1876Ala
XM_011527561.2:c.5338C>G XP_011525863.2:p.Pro1780Ala
XM_011527562.2:c.5902C>G XP_011525864.1:p.Pro1968Ala
XM_017027544.1:c.5902C>G XP_016883033.1:p.Pro1968Ala
XM_017027545.1:c.5338C>G XP_016883034.1:p.Pro1780Ala
XM_017027546.1:c.2866C>G XP_016883035.1:p.Pro956Ala
NM_014727.3:c.5902C>G MANE Select NP_055542.1:p.Pro1968Ala