Canonical Allele Identifier: CA9385670

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 3044229
• ClinVar RCV Id: RCV004552680
• dbSNP Id: rs369549803
• ExAC: 19:36223789 T / C
• gnomAD v2: 19-36223789-T-C
• gnomAD v3: 19-35732888-T-C
• gnomAD v4: 19-35732888-T-C
• MyVariant Identifiers: chr19:g.36223789T>C (hg19) ; chr19:g.35732888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732888T>C , CM000681.2:g.35732888T>C	GRCh38
NC_000019.9:g.36223789T>C , CM000681.1:g.36223789T>C	GRCh37
NC_000019.8:g.40915629T>C	NCBI36
NG_052906.1:g.19870T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.645T>C
ENST00000673918.2:c.6273T>C	ENSP00000501283.1:p.Ile2091=
ENST00000674114.2:c.3880T>C	ENSP00000501039.2:n.3880T>C
ENST00000684977.1:c.1557T>C	ENSP00000509384.1:p.Ile519=
ENST00000689544.1:n.1492T>C
ENST00000691421.1:c.1560T>C	ENSP00000508674.1:p.Ile520=
ENST00000691855.1:c.5881T>C
ENST00000692961.1:c.6339T>C	ENSP00000509289.1:p.Ile2113=
ENST00000693677.1:c.704+559T>C	ENSP00000509779.1:n.704+559T>C
ENST00000420124.4:c.6339T>C MANE Select	ENSP00000398837.2:p.Ile2113=
ENST00000673918.1:c.6273T>C	ENSP00000501283.1:p.Ile2091=
ENST00000674114.1:c.3661T>C
ENST00000420124.2:c.6339T>C	ENSP00000398837.1:p.Ile2113=
NM_014727.2:c.6339T>C	NP_055542.1:p.Ile2113=
XM_011527561.1:c.6273T>C	XP_011525863.1:p.Ile2091=
XM_011527562.1:c.6339T>C	XP_011525864.1:p.Ile2113=
XM_011527563.1:c.6063T>C	XP_011525865.1:p.Ile2021=
XM_011527561.2:c.5775T>C	XP_011525863.2:p.Ile1925=
XM_011527562.2:c.6339T>C	XP_011525864.1:p.Ile2113=
XM_017027544.1:c.6339T>C	XP_016883033.1:p.Ile2113=
XM_017027545.1:c.5775T>C	XP_016883034.1:p.Ile1925=
XM_017027546.1:c.3303T>C	XP_016883035.1:p.Ile1101=
NM_014727.3:c.6339T>C MANE Select	NP_055542.1:p.Ile2113=