Canonical Allele Identifier: CA405427537

Gene: KMT2B

Linked Data

• dbSNP Id: rs1346237719
• gnomAD v2: 19-36223736-C-T
• gnomAD v4: 19-35732835-C-T
• MyVariant Identifiers: chr19:g.36223736C>T (hg19) ; chr19:g.35732835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732835C>T , CM000681.2:g.35732835C>T	GRCh38
NC_000019.9:g.36223736C>T , CM000681.1:g.36223736C>T	GRCh37
NC_000019.8:g.40915576C>T	NCBI36
NG_052906.1:g.19817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.592C>T
ENST00000673918.2:c.6220C>T	ENSP00000501283.1:p.Leu2074Phe
ENST00000674114.2:c.3827C>T	ENSP00000501039.2:n.3827C>T
ENST00000684977.1:c.1504C>T	ENSP00000509384.1:p.Leu502Phe
ENST00000689544.1:n.1439C>T
ENST00000691421.1:c.1507C>T	ENSP00000508674.1:p.Leu503Phe
ENST00000691855.1:c.5828C>T
ENST00000692961.1:c.6286C>T	ENSP00000509289.1:p.Leu2096Phe
ENST00000693677.1:c.704+506C>T	ENSP00000509779.1:n.704+506C>T
ENST00000420124.4:c.6286C>T MANE Select	ENSP00000398837.2:p.Leu2096Phe
ENST00000673918.1:c.6220C>T	ENSP00000501283.1:p.Leu2074Phe
ENST00000674114.1:c.3608C>T
ENST00000420124.2:c.6286C>T	ENSP00000398837.1:p.Leu2096Phe
NM_014727.2:c.6286C>T	NP_055542.1:p.Leu2096Phe
XM_011527561.1:c.6220C>T	XP_011525863.1:p.Leu2074Phe
XM_011527562.1:c.6286C>T	XP_011525864.1:p.Leu2096Phe
XM_011527563.1:c.6010C>T	XP_011525865.1:p.Leu2004Phe
XM_011527561.2:c.5722C>T	XP_011525863.2:p.Leu1908Phe
XM_011527562.2:c.6286C>T	XP_011525864.1:p.Leu2096Phe
XM_017027544.1:c.6286C>T	XP_016883033.1:p.Leu2096Phe
XM_017027545.1:c.5722C>T	XP_016883034.1:p.Leu1908Phe
XM_017027546.1:c.3250C>T	XP_016883035.1:p.Leu1084Phe
NM_014727.3:c.6286C>T MANE Select	NP_055542.1:p.Leu2096Phe