Canonical Allele Identifier: CA507308675
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36224570T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733669T>C , CM000681.2:g.35733669T>C GRCh38
NC_000019.9:g.36224570T>C , CM000681.1:g.36224570T>C GRCh37
NC_000019.8:g.40916410T>C NCBI36
NG_052906.1:g.20651T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.1426T>C
ENST00000673918.2:c.6966T>C ENSP00000501283.1:p.Ala2322=
ENST00000674114.2:c.4573T>C ENSP00000501039.2:n.4573T>C
ENST00000684977.1:c.2227T>C ENSP00000509384.1:n.2227T>C
ENST00000689544.1:n.2273T>C
ENST00000691421.1:c.2181-94T>C ENSP00000508674.1:n.2181-94T>C
ENST00000691855.1:c.6574T>C
ENST00000692961.1:c.6960-80T>C ENSP00000509289.1:n.6960-80T>C
ENST00000693677.1:c.777T>C ENSP00000509779.1:p.Ala259=
ENST00000420124.4:c.7032T>C MANE Select ENSP00000398837.2:p.Ala2344=
ENST00000673918.1:c.6966T>C ENSP00000501283.1:p.Ala2322=
ENST00000674114.1:c.4354T>C
ENST00000420124.2:c.7032T>C ENSP00000398837.1:p.Ala2344=
ENST00000592092.1:n.412T>C
NM_014727.2:c.7032T>C NP_055542.1:p.Ala2344=
XM_011527561.1:c.6966T>C XP_011525863.1:p.Ala2322=
XM_011527562.1:c.7032T>C XP_011525864.1:p.Ala2344=
XM_011527563.1:c.6756T>C XP_011525865.1:p.Ala2252=
XM_011527561.2:c.6468T>C XP_011525863.2:p.Ala2156=
XM_011527562.2:c.7032T>C XP_011525864.1:p.Ala2344=
XM_017027544.1:c.6960-94T>C XP_016883033.1:n.6960-94T>C
XM_017027545.1:c.6468T>C XP_016883034.1:p.Ala2156=
XM_017027546.1:c.3996T>C XP_016883035.1:p.Ala1332=
NM_014727.3:c.7032T>C MANE Select NP_055542.1:p.Ala2344=