Canonical Allele Identifier: CA405424915

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1031294
• ClinVar RCV Id: RCV001333084
• dbSNP Id: rs771880175
• MyVariant Identifiers: chr19:g.36223424G>T (hg19) ; chr19:g.35732523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732523G>T , CM000681.2:g.35732523G>T	GRCh38
NC_000019.9:g.36223424G>T , CM000681.1:g.36223424G>T	GRCh37
NC_000019.8:g.40915264G>T	NCBI36
NG_052906.1:g.19505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.280G>T
ENST00000673918.2:c.5908G>T	ENSP00000501283.1:p.Asp1970Tyr
ENST00000674114.2:c.3515G>T	ENSP00000501039.2:n.3515G>T
ENST00000684977.1:c.1192G>T	ENSP00000509384.1:p.Asp398Tyr
ENST00000689544.1:n.1127G>T
ENST00000691421.1:c.1195G>T	ENSP00000508674.1:p.Asp399Tyr
ENST00000691855.1:c.5516G>T
ENST00000692961.1:c.5974G>T	ENSP00000509289.1:p.Asp1992Tyr
ENST00000693677.1:c.704+194G>T	ENSP00000509779.1:n.704+194G>T
ENST00000420124.4:c.5974G>T MANE Select	ENSP00000398837.2:p.Asp1992Tyr
ENST00000673918.1:c.5908G>T	ENSP00000501283.1:p.Asp1970Tyr
ENST00000674114.1:c.3296G>T
ENST00000420124.2:c.5974G>T	ENSP00000398837.1:p.Asp1992Tyr
NM_014727.2:c.5974G>T	NP_055542.1:p.Asp1992Tyr
XM_011527561.1:c.5908G>T	XP_011525863.1:p.Asp1970Tyr
XM_011527562.1:c.5974G>T	XP_011525864.1:p.Asp1992Tyr
XM_011527563.1:c.5698G>T	XP_011525865.1:p.Asp1900Tyr
XM_011527561.2:c.5410G>T	XP_011525863.2:p.Asp1804Tyr
XM_011527562.2:c.5974G>T	XP_011525864.1:p.Asp1992Tyr
XM_017027544.1:c.5974G>T	XP_016883033.1:p.Asp1992Tyr
XM_017027545.1:c.5410G>T	XP_016883034.1:p.Asp1804Tyr
XM_017027546.1:c.2938G>T	XP_016883035.1:p.Asp980Tyr
NM_014727.3:c.5974G>T MANE Select	NP_055542.1:p.Asp1992Tyr