Canonical Allele Identifier: CA405427528
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs777783398

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732833T>G , CM000681.2:g.35732833T>G GRCh38
NC_000019.9:g.36223734T>G , CM000681.1:g.36223734T>G GRCh37
NC_000019.8:g.40915574T>G NCBI36
NG_052906.1:g.19815T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.590T>G
ENST00000673918.2:c.6218T>G ENSP00000501283.1:p.Val2073Gly
ENST00000674114.2:c.3825T>G ENSP00000501039.2:n.3825T>G
ENST00000684977.1:c.1502T>G ENSP00000509384.1:p.Val501Gly
ENST00000689544.1:n.1437T>G
ENST00000691421.1:c.1505T>G ENSP00000508674.1:p.Val502Gly
ENST00000691855.1:c.5826T>G
ENST00000692961.1:c.6284T>G ENSP00000509289.1:p.Val2095Gly
ENST00000693677.1:c.704+504T>G ENSP00000509779.1:n.704+504T>G
ENST00000420124.4:c.6284T>G MANE Select ENSP00000398837.2:p.Val2095Gly
ENST00000673918.1:c.6218T>G ENSP00000501283.1:p.Val2073Gly
ENST00000674114.1:c.3606T>G
ENST00000420124.2:c.6284T>G ENSP00000398837.1:p.Val2095Gly
NM_014727.2:c.6284T>G NP_055542.1:p.Val2095Gly
XM_011527561.1:c.6218T>G XP_011525863.1:p.Val2073Gly
XM_011527562.1:c.6284T>G XP_011525864.1:p.Val2095Gly
XM_011527563.1:c.6008T>G XP_011525865.1:p.Val2003Gly
XM_011527561.2:c.5720T>G XP_011525863.2:p.Val1907Gly
XM_011527562.2:c.6284T>G XP_011525864.1:p.Val2095Gly
XM_017027544.1:c.6284T>G XP_016883033.1:p.Val2095Gly
XM_017027545.1:c.5720T>G XP_016883034.1:p.Val1907Gly
XM_017027546.1:c.3248T>G XP_016883035.1:p.Val1083Gly
NM_014727.3:c.6284T>G MANE Select NP_055542.1:p.Val2095Gly