Canonical Allele Identifier: CA405428419
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1969770528

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732971C>G , CM000681.2:g.35732971C>G GRCh38
NC_000019.9:g.36223872C>G , CM000681.1:g.36223872C>G GRCh37
NC_000019.8:g.40915712C>G NCBI36
NG_052906.1:g.19953C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.728C>G
ENST00000673918.2:c.6356C>G ENSP00000501283.1:p.Pro2119Arg
ENST00000674114.2:c.3963C>G ENSP00000501039.2:n.3963C>G
ENST00000684977.1:c.1640C>G ENSP00000509384.1:p.Pro547Arg
ENST00000689544.1:n.1575C>G
ENST00000691421.1:c.1643C>G ENSP00000508674.1:p.Pro548Arg
ENST00000691855.1:c.5964C>G
ENST00000692961.1:c.6422C>G ENSP00000509289.1:p.Pro2141Arg
ENST00000693677.1:c.705-626C>G ENSP00000509779.1:n.705-626C>G
ENST00000420124.4:c.6422C>G MANE Select ENSP00000398837.2:p.Pro2141Arg
ENST00000673918.1:c.6356C>G ENSP00000501283.1:p.Pro2119Arg
ENST00000674114.1:c.3744C>G
ENST00000420124.2:c.6422C>G ENSP00000398837.1:p.Pro2141Arg
NM_014727.2:c.6422C>G NP_055542.1:p.Pro2141Arg
XM_011527561.1:c.6356C>G XP_011525863.1:p.Pro2119Arg
XM_011527562.1:c.6422C>G XP_011525864.1:p.Pro2141Arg
XM_011527563.1:c.6146C>G XP_011525865.1:p.Pro2049Arg
XM_011527561.2:c.5858C>G XP_011525863.2:p.Pro1953Arg
XM_011527562.2:c.6422C>G XP_011525864.1:p.Pro2141Arg
XM_017027544.1:c.6422C>G XP_016883033.1:p.Pro2141Arg
XM_017027545.1:c.5858C>G XP_016883034.1:p.Pro1953Arg
XM_017027546.1:c.3386C>G XP_016883035.1:p.Pro1129Arg
NM_014727.3:c.6422C>G MANE Select NP_055542.1:p.Pro2141Arg