Canonical Allele Identifier: CA405427593

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732845-C-A
• MyVariant Identifiers: chr19:g.36223746C>A (hg19) ; chr19:g.35732845C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732845C>A , CM000681.2:g.35732845C>A	GRCh38
NC_000019.9:g.36223746C>A , CM000681.1:g.36223746C>A	GRCh37
NC_000019.8:g.40915586C>A	NCBI36
NG_052906.1:g.19827C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.602C>A
ENST00000673918.2:c.6230C>A	ENSP00000501283.1:p.Ala2077Glu
ENST00000674114.2:c.3837C>A	ENSP00000501039.2:n.3837C>A
ENST00000684977.1:c.1514C>A	ENSP00000509384.1:p.Ala505Glu
ENST00000689544.1:n.1449C>A
ENST00000691421.1:c.1517C>A	ENSP00000508674.1:p.Ala506Glu
ENST00000691855.1:c.5838C>A
ENST00000692961.1:c.6296C>A	ENSP00000509289.1:p.Ala2099Glu
ENST00000693677.1:c.704+516C>A	ENSP00000509779.1:n.704+516C>A
ENST00000420124.4:c.6296C>A MANE Select	ENSP00000398837.2:p.Ala2099Glu
ENST00000673918.1:c.6230C>A	ENSP00000501283.1:p.Ala2077Glu
ENST00000674114.1:c.3618C>A
ENST00000420124.2:c.6296C>A	ENSP00000398837.1:p.Ala2099Glu
NM_014727.2:c.6296C>A	NP_055542.1:p.Ala2099Glu
XM_011527561.1:c.6230C>A	XP_011525863.1:p.Ala2077Glu
XM_011527562.1:c.6296C>A	XP_011525864.1:p.Ala2099Glu
XM_011527563.1:c.6020C>A	XP_011525865.1:p.Ala2007Glu
XM_011527561.2:c.5732C>A	XP_011525863.2:p.Ala1911Glu
XM_011527562.2:c.6296C>A	XP_011525864.1:p.Ala2099Glu
XM_017027544.1:c.6296C>A	XP_016883033.1:p.Ala2099Glu
XM_017027545.1:c.5732C>A	XP_016883034.1:p.Ala1911Glu
XM_017027546.1:c.3260C>A	XP_016883035.1:p.Ala1087Glu
NM_014727.3:c.6296C>A MANE Select	NP_055542.1:p.Ala2099Glu