Canonical Allele Identifier: CA307796217

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2992320
• ClinVar RCV Id: RCV003855447
• dbSNP Id: rs867769309
• gnomAD v2: 19-36223509-C-T
• gnomAD v3: 19-35732608-C-T
• gnomAD v4: 19-35732608-C-T
• MyVariant Identifiers: chr19:g.36223509C>T (hg19) ; chr19:g.35732608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732608C>T , CM000681.2:g.35732608C>T	GRCh38
NC_000019.9:g.36223509C>T , CM000681.1:g.36223509C>T	GRCh37
NC_000019.8:g.40915349C>T	NCBI36
NG_052906.1:g.19590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.365C>T
ENST00000673918.2:c.5993C>T	ENSP00000501283.1:p.Pro1998Leu
ENST00000674114.2:c.3600C>T	ENSP00000501039.2:n.3600C>T
ENST00000684977.1:c.1277C>T	ENSP00000509384.1:p.Pro426Leu
ENST00000689544.1:n.1212C>T
ENST00000691421.1:c.1280C>T	ENSP00000508674.1:p.Pro427Leu
ENST00000691855.1:c.5601C>T
ENST00000692961.1:c.6059C>T	ENSP00000509289.1:p.Pro2020Leu
ENST00000693677.1:c.704+279C>T	ENSP00000509779.1:n.704+279C>T
ENST00000420124.4:c.6059C>T MANE Select	ENSP00000398837.2:p.Pro2020Leu
ENST00000673918.1:c.5993C>T	ENSP00000501283.1:p.Pro1998Leu
ENST00000674114.1:c.3381C>T
ENST00000420124.2:c.6059C>T	ENSP00000398837.1:p.Pro2020Leu
NM_014727.2:c.6059C>T	NP_055542.1:p.Pro2020Leu
XM_011527561.1:c.5993C>T	XP_011525863.1:p.Pro1998Leu
XM_011527562.1:c.6059C>T	XP_011525864.1:p.Pro2020Leu
XM_011527563.1:c.5783C>T	XP_011525865.1:p.Pro1928Leu
XM_011527561.2:c.5495C>T	XP_011525863.2:p.Pro1832Leu
XM_011527562.2:c.6059C>T	XP_011525864.1:p.Pro2020Leu
XM_017027544.1:c.6059C>T	XP_016883033.1:p.Pro2020Leu
XM_017027545.1:c.5495C>T	XP_016883034.1:p.Pro1832Leu
XM_017027546.1:c.3023C>T	XP_016883035.1:p.Pro1008Leu
NM_014727.3:c.6059C>T MANE Select	NP_055542.1:p.Pro2020Leu