Canonical Allele Identifier: CA405426068

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732764-C-T
• MyVariant Identifiers: chr19:g.36223665C>T (hg19) ; chr19:g.35732764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732764C>T , CM000681.2:g.35732764C>T	GRCh38
NC_000019.9:g.36223665C>T , CM000681.1:g.36223665C>T	GRCh37
NC_000019.8:g.40915505C>T	NCBI36
NG_052906.1:g.19746C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.521C>T
ENST00000673918.2:c.6149C>T	ENSP00000501283.1:p.Ala2050Val
ENST00000674114.2:c.3756C>T	ENSP00000501039.2:n.3756C>T
ENST00000684977.1:c.1433C>T	ENSP00000509384.1:p.Ala478Val
ENST00000689544.1:n.1368C>T
ENST00000691421.1:c.1436C>T	ENSP00000508674.1:p.Ala479Val
ENST00000691855.1:c.5757C>T
ENST00000692961.1:c.6215C>T	ENSP00000509289.1:p.Ala2072Val
ENST00000693677.1:c.704+435C>T	ENSP00000509779.1:n.704+435C>T
ENST00000420124.4:c.6215C>T MANE Select	ENSP00000398837.2:p.Ala2072Val
ENST00000673918.1:c.6149C>T	ENSP00000501283.1:p.Ala2050Val
ENST00000674114.1:c.3537C>T
ENST00000420124.2:c.6215C>T	ENSP00000398837.1:p.Ala2072Val
NM_014727.2:c.6215C>T	NP_055542.1:p.Ala2072Val
XM_011527561.1:c.6149C>T	XP_011525863.1:p.Ala2050Val
XM_011527562.1:c.6215C>T	XP_011525864.1:p.Ala2072Val
XM_011527563.1:c.5939C>T	XP_011525865.1:p.Ala1980Val
XM_011527561.2:c.5651C>T	XP_011525863.2:p.Ala1884Val
XM_011527562.2:c.6215C>T	XP_011525864.1:p.Ala2072Val
XM_017027544.1:c.6215C>T	XP_016883033.1:p.Ala2072Val
XM_017027545.1:c.5651C>T	XP_016883034.1:p.Ala1884Val
XM_017027546.1:c.3179C>T	XP_016883035.1:p.Ala1060Val
NM_014727.3:c.6215C>T MANE Select	NP_055542.1:p.Ala2072Val