Canonical Allele Identifier: CA405425764

Gene: KMT2B

Linked Data

• dbSNP Id: rs1367582284
• gnomAD v2: 19-36223574-G-T
• gnomAD v3: 19-35732673-G-T
• gnomAD v4: 19-35732673-G-T
• MyVariant Identifiers: chr19:g.36223574G>T (hg19) ; chr19:g.35732673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732673G>T , CM000681.2:g.35732673G>T	GRCh38
NC_000019.9:g.36223574G>T , CM000681.1:g.36223574G>T	GRCh37
NC_000019.8:g.40915414G>T	NCBI36
NG_052906.1:g.19655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.430G>T
ENST00000673918.2:c.6058G>T	ENSP00000501283.1:p.Val2020Leu
ENST00000674114.2:c.3665G>T	ENSP00000501039.2:n.3665G>T
ENST00000684977.1:c.1342G>T	ENSP00000509384.1:p.Val448Leu
ENST00000689544.1:n.1277G>T
ENST00000691421.1:c.1345G>T	ENSP00000508674.1:p.Val449Leu
ENST00000691855.1:c.5666G>T
ENST00000692961.1:c.6124G>T	ENSP00000509289.1:p.Val2042Leu
ENST00000693677.1:c.704+344G>T	ENSP00000509779.1:n.704+344G>T
ENST00000420124.4:c.6124G>T MANE Select	ENSP00000398837.2:p.Val2042Leu
ENST00000673918.1:c.6058G>T	ENSP00000501283.1:p.Val2020Leu
ENST00000674114.1:c.3446G>T
ENST00000420124.2:c.6124G>T	ENSP00000398837.1:p.Val2042Leu
NM_014727.2:c.6124G>T	NP_055542.1:p.Val2042Leu
XM_011527561.1:c.6058G>T	XP_011525863.1:p.Val2020Leu
XM_011527562.1:c.6124G>T	XP_011525864.1:p.Val2042Leu
XM_011527563.1:c.5848G>T	XP_011525865.1:p.Val1950Leu
XM_011527561.2:c.5560G>T	XP_011525863.2:p.Val1854Leu
XM_011527562.2:c.6124G>T	XP_011525864.1:p.Val2042Leu
XM_017027544.1:c.6124G>T	XP_016883033.1:p.Val2042Leu
XM_017027545.1:c.5560G>T	XP_016883034.1:p.Val1854Leu
XM_017027546.1:c.3088G>T	XP_016883035.1:p.Val1030Leu
NM_014727.3:c.6124G>T MANE Select	NP_055542.1:p.Val2042Leu