Canonical Allele Identifier: CA9385842

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2961567
• ClinVar RCV Id: RCV003822213
• dbSNP Id: rs928715755
• ExAC: 19:36224667 C / T
• gnomAD v2: 19-36224667-C-T
• gnomAD v3: 19-35733766-C-T
• gnomAD v4: 19-35733766-C-T
• MyVariant Identifiers: chr19:g.36224667C>T (hg19) ; chr19:g.36224667_36224676delinsTCTCCAGGAA (hg19) ; chr19:g.35733766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733766C>T , CM000681.2:g.35733766C>T	GRCh38
NC_000019.9:g.36224667C>T , CM000681.1:g.36224667C>T	GRCh37
NC_000019.8:g.40916507C>T	NCBI36
NG_052906.1:g.20748C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1523C>T
ENST00000673918.2:c.6987C>T	ENSP00000501283.1:p.Pro2329=
ENST00000674114.2:c.4594C>T	ENSP00000501039.2:n.4594C>T
ENST00000684977.1:c.2248C>T	ENSP00000509384.1:n.2248C>T
ENST00000689544.1:n.2294C>T
ENST00000689929.1:c.4C>T
ENST00000691421.1:c.2184C>T	ENSP00000508674.1:p.Pro728=
ENST00000691855.1:c.6595C>T
ENST00000692961.1:c.6977C>T	ENSP00000509289.1:p.Pro2326Leu
ENST00000693175.1:c.4C>T
ENST00000693677.1:c.798C>T	ENSP00000509779.1:p.Pro266=
ENST00000420124.4:c.7053C>T MANE Select	ENSP00000398837.2:p.Pro2351=
ENST00000673918.1:c.6987C>T	ENSP00000501283.1:p.Pro2329=
ENST00000674114.1:c.4375C>T
ENST00000420124.2:c.7053C>T	ENSP00000398837.1:p.Pro2351=
ENST00000592092.1:n.433C>T
NM_014727.2:c.7053C>T	NP_055542.1:p.Pro2351=
XM_011527561.1:c.6987C>T	XP_011525863.1:p.Pro2329=
XM_011527562.1:c.7053C>T	XP_011525864.1:p.Pro2351=
XM_011527563.1:c.6777C>T	XP_011525865.1:p.Pro2259=
XM_011527561.2:c.6489C>T	XP_011525863.2:p.Pro2163=
XM_011527562.2:c.7053C>T	XP_011525864.1:p.Pro2351=
XM_017027544.1:c.6963C>T	XP_016883033.1:p.Pro2321=
XM_017027545.1:c.6489C>T	XP_016883034.1:p.Pro2163=
XM_017027546.1:c.4017C>T	XP_016883035.1:p.Pro1339=
NM_014727.3:c.7053C>T MANE Select	NP_055542.1:p.Pro2351=