Canonical Allele Identifier: CA9385608

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2972187
• ClinVar RCV Id: RCV003835313
• dbSNP Id: rs764034242
• ExAC: 19:36223553 A / G
• gnomAD v2: 19-36223553-A-G
• gnomAD v3: 19-35732652-A-G
• gnomAD v4: 19-35732652-A-G
• MyVariant Identifiers: chr19:g.36223553A>G (hg19) ; chr19:g.35732652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732652A>G , CM000681.2:g.35732652A>G	GRCh38
NC_000019.9:g.36223553A>G , CM000681.1:g.36223553A>G	GRCh37
NC_000019.8:g.40915393A>G	NCBI36
NG_052906.1:g.19634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.409A>G
ENST00000673918.2:c.6037A>G	ENSP00000501283.1:p.Ile2013Val
ENST00000674114.2:c.3644A>G	ENSP00000501039.2:n.3644A>G
ENST00000684977.1:c.1321A>G	ENSP00000509384.1:p.Ile441Val
ENST00000689544.1:n.1256A>G
ENST00000691421.1:c.1324A>G	ENSP00000508674.1:p.Ile442Val
ENST00000691855.1:c.5645A>G
ENST00000692961.1:c.6103A>G	ENSP00000509289.1:p.Ile2035Val
ENST00000693677.1:c.704+323A>G	ENSP00000509779.1:n.704+323A>G
ENST00000420124.4:c.6103A>G MANE Select	ENSP00000398837.2:p.Ile2035Val
ENST00000673918.1:c.6037A>G	ENSP00000501283.1:p.Ile2013Val
ENST00000674114.1:c.3425A>G
ENST00000420124.2:c.6103A>G	ENSP00000398837.1:p.Ile2035Val
NM_014727.2:c.6103A>G	NP_055542.1:p.Ile2035Val
XM_011527561.1:c.6037A>G	XP_011525863.1:p.Ile2013Val
XM_011527562.1:c.6103A>G	XP_011525864.1:p.Ile2035Val
XM_011527563.1:c.5827A>G	XP_011525865.1:p.Ile1943Val
XM_011527561.2:c.5539A>G	XP_011525863.2:p.Ile1847Val
XM_011527562.2:c.6103A>G	XP_011525864.1:p.Ile2035Val
XM_017027544.1:c.6103A>G	XP_016883033.1:p.Ile2035Val
XM_017027545.1:c.5539A>G	XP_016883034.1:p.Ile1847Val
XM_017027546.1:c.3067A>G	XP_016883035.1:p.Ile1023Val
NM_014727.3:c.6103A>G MANE Select	NP_055542.1:p.Ile2035Val