Canonical Allele Identifier: CA9385638

Gene: KMT2B

Linked Data

• dbSNP Id: rs781468191
• ExAC: 19:36223673 G / T
• gnomAD v2: 19-36223673-G-T
• MyVariant Identifiers: chr19:g.36223673G>T (hg19) ; chr19:g.35732772G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732772G>T , CM000681.2:g.35732772G>T	GRCh38
NC_000019.9:g.36223673G>T , CM000681.1:g.36223673G>T	GRCh37
NC_000019.8:g.40915513G>T	NCBI36
NG_052906.1:g.19754G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.529G>T
ENST00000673918.2:c.6157G>T	ENSP00000501283.1:p.Val2053Leu
ENST00000674114.2:c.3764G>T	ENSP00000501039.2:n.3764G>T
ENST00000684977.1:c.1441G>T	ENSP00000509384.1:p.Val481Leu
ENST00000689544.1:n.1376G>T
ENST00000691421.1:c.1444G>T	ENSP00000508674.1:p.Val482Leu
ENST00000691855.1:c.5765G>T
ENST00000692961.1:c.6223G>T	ENSP00000509289.1:p.Val2075Leu
ENST00000693677.1:c.704+443G>T	ENSP00000509779.1:n.704+443G>T
ENST00000420124.4:c.6223G>T MANE Select	ENSP00000398837.2:p.Val2075Leu
ENST00000673918.1:c.6157G>T	ENSP00000501283.1:p.Val2053Leu
ENST00000674114.1:c.3545G>T
ENST00000420124.2:c.6223G>T	ENSP00000398837.1:p.Val2075Leu
NM_014727.2:c.6223G>T	NP_055542.1:p.Val2075Leu
XM_011527561.1:c.6157G>T	XP_011525863.1:p.Val2053Leu
XM_011527562.1:c.6223G>T	XP_011525864.1:p.Val2075Leu
XM_011527563.1:c.5947G>T	XP_011525865.1:p.Val1983Leu
XM_011527561.2:c.5659G>T	XP_011525863.2:p.Val1887Leu
XM_011527562.2:c.6223G>T	XP_011525864.1:p.Val2075Leu
XM_017027544.1:c.6223G>T	XP_016883033.1:p.Val2075Leu
XM_017027545.1:c.5659G>T	XP_016883034.1:p.Val1887Leu
XM_017027546.1:c.3187G>T	XP_016883035.1:p.Val1063Leu
NM_014727.3:c.6223G>T MANE Select	NP_055542.1:p.Val2075Leu