Canonical Allele Identifier: CA405426049
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732757A>C , CM000681.2:g.35732757A>C GRCh38
NC_000019.9:g.36223658A>C , CM000681.1:g.36223658A>C GRCh37
NC_000019.8:g.40915498A>C NCBI36
NG_052906.1:g.19739A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.514A>C
ENST00000673918.2:c.6142A>C ENSP00000501283.1:p.Ser2048Arg
ENST00000674114.2:c.3749A>C ENSP00000501039.2:n.3749A>C
ENST00000684977.1:c.1426A>C ENSP00000509384.1:p.Ser476Arg
ENST00000689544.1:n.1361A>C
ENST00000691421.1:c.1429A>C ENSP00000508674.1:p.Ser477Arg
ENST00000691855.1:c.5750A>C
ENST00000692961.1:c.6208A>C ENSP00000509289.1:p.Ser2070Arg
ENST00000693677.1:c.704+428A>C ENSP00000509779.1:n.704+428A>C
ENST00000420124.4:c.6208A>C MANE Select ENSP00000398837.2:p.Ser2070Arg
ENST00000673918.1:c.6142A>C ENSP00000501283.1:p.Ser2048Arg
ENST00000674114.1:c.3530A>C
ENST00000420124.2:c.6208A>C ENSP00000398837.1:p.Ser2070Arg
NM_014727.2:c.6208A>C NP_055542.1:p.Ser2070Arg
XM_011527561.1:c.6142A>C XP_011525863.1:p.Ser2048Arg
XM_011527562.1:c.6208A>C XP_011525864.1:p.Ser2070Arg
XM_011527563.1:c.5932A>C XP_011525865.1:p.Ser1978Arg
XM_011527561.2:c.5644A>C XP_011525863.2:p.Ser1882Arg
XM_011527562.2:c.6208A>C XP_011525864.1:p.Ser2070Arg
XM_017027544.1:c.6208A>C XP_016883033.1:p.Ser2070Arg
XM_017027545.1:c.5644A>C XP_016883034.1:p.Ser1882Arg
XM_017027546.1:c.3172A>C XP_016883035.1:p.Ser1058Arg
NM_014727.3:c.6208A>C MANE Select NP_055542.1:p.Ser2070Arg