Canonical Allele Identifier: CA9385564

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1928000
• ClinVar RCV Id: RCV002621991
• dbSNP Id: rs762298496
• ExAC: 19:36223354 A / T
• gnomAD v2: 19-36223354-A-T
• gnomAD v4: 19-35732453-A-T
• MyVariant Identifiers: chr19:g.36223354A>T (hg19) ; chr19:g.35732453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732453A>T , CM000681.2:g.35732453A>T	GRCh38
NC_000019.9:g.36223354A>T , CM000681.1:g.36223354A>T	GRCh37
NC_000019.8:g.40915194A>T	NCBI36
NG_052906.1:g.19435A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.210A>T
ENST00000673918.2:c.5838A>T	ENSP00000501283.1:p.Pro1946=
ENST00000674114.2:c.3445A>T	ENSP00000501039.2:n.3445A>T
ENST00000684977.1:c.1122A>T	ENSP00000509384.1:p.Pro374=
ENST00000689544.1:n.1057A>T
ENST00000691421.1:c.1125A>T	ENSP00000508674.1:p.Pro375=
ENST00000691855.1:c.5446A>T
ENST00000692961.1:c.5904A>T	ENSP00000509289.1:p.Pro1968=
ENST00000693677.1:c.704+124A>T	ENSP00000509779.1:n.704+124A>T
ENST00000420124.4:c.5904A>T MANE Select	ENSP00000398837.2:p.Pro1968=
ENST00000673918.1:c.5838A>T	ENSP00000501283.1:p.Pro1946=
ENST00000674114.1:c.3226A>T
ENST00000420124.2:c.5904A>T	ENSP00000398837.1:p.Pro1968=
NM_014727.2:c.5904A>T	NP_055542.1:p.Pro1968=
XM_011527561.1:c.5838A>T	XP_011525863.1:p.Pro1946=
XM_011527562.1:c.5904A>T	XP_011525864.1:p.Pro1968=
XM_011527563.1:c.5628A>T	XP_011525865.1:p.Pro1876=
XM_011527561.2:c.5340A>T	XP_011525863.2:p.Pro1780=
XM_011527562.2:c.5904A>T	XP_011525864.1:p.Pro1968=
XM_017027544.1:c.5904A>T	XP_016883033.1:p.Pro1968=
XM_017027545.1:c.5340A>T	XP_016883034.1:p.Pro1780=
XM_017027546.1:c.2868A>T	XP_016883035.1:p.Pro956=
NM_014727.3:c.5904A>T MANE Select	NP_055542.1:p.Pro1968=