Canonical Allele Identifier: CA405428680

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1712634
• ClinVar RCV Id: RCV002300806
• MyVariant Identifiers: chr19:g.36223917C>G (hg19) ; chr19:g.35733016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733016C>G , CM000681.2:g.35733016C>G	GRCh38
NC_000019.9:g.36223917C>G , CM000681.1:g.36223917C>G	GRCh37
NC_000019.8:g.40915757C>G	NCBI36
NG_052906.1:g.19998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.773C>G
ENST00000673918.2:c.6401C>G	ENSP00000501283.1:p.Pro2134Arg
ENST00000674114.2:c.4008C>G	ENSP00000501039.2:n.4008C>G
ENST00000684977.1:c.1685C>G	ENSP00000509384.1:p.Pro562Arg
ENST00000689544.1:n.1620C>G
ENST00000691421.1:c.1688C>G	ENSP00000508674.1:p.Pro563Arg
ENST00000691855.1:c.6009C>G
ENST00000692961.1:c.6467C>G	ENSP00000509289.1:p.Pro2156Arg
ENST00000693677.1:c.705-581C>G	ENSP00000509779.1:n.705-581C>G
ENST00000420124.4:c.6467C>G MANE Select	ENSP00000398837.2:p.Pro2156Arg
ENST00000673918.1:c.6401C>G	ENSP00000501283.1:p.Pro2134Arg
ENST00000674114.1:c.3789C>G
ENST00000420124.2:c.6467C>G	ENSP00000398837.1:p.Pro2156Arg
NM_014727.2:c.6467C>G	NP_055542.1:p.Pro2156Arg
XM_011527561.1:c.6401C>G	XP_011525863.1:p.Pro2134Arg
XM_011527562.1:c.6467C>G	XP_011525864.1:p.Pro2156Arg
XM_011527563.1:c.6191C>G	XP_011525865.1:p.Pro2064Arg
XM_011527561.2:c.5903C>G	XP_011525863.2:p.Pro1968Arg
XM_011527562.2:c.6467C>G	XP_011525864.1:p.Pro2156Arg
XM_017027544.1:c.6467C>G	XP_016883033.1:p.Pro2156Arg
XM_017027545.1:c.5903C>G	XP_016883034.1:p.Pro1968Arg
XM_017027546.1:c.3431C>G	XP_016883035.1:p.Pro1144Arg
NM_014727.3:c.6467C>G MANE Select	NP_055542.1:p.Pro2156Arg