Canonical Allele Identifier: CA507308882

Gene: KMT2B

Linked Data

• dbSNP Id: rs1203674124
• gnomAD v3: 19-35732966-G-T
• gnomAD v4: 19-35732966-G-T
• MyVariant Identifiers: chr19:g.36223867G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732966G>T , CM000681.2:g.35732966G>T	GRCh38
NC_000019.9:g.36223867G>T , CM000681.1:g.36223867G>T	GRCh37
NC_000019.8:g.40915707G>T	NCBI36
NG_052906.1:g.19948G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.723G>T
ENST00000673918.2:c.6351G>T	ENSP00000501283.1:p.Ala2117=
ENST00000674114.2:c.3958G>T	ENSP00000501039.2:n.3958G>T
ENST00000684977.1:c.1635G>T	ENSP00000509384.1:p.Ala545=
ENST00000689544.1:n.1570G>T
ENST00000691421.1:c.1638G>T	ENSP00000508674.1:p.Ala546=
ENST00000691855.1:c.5959G>T
ENST00000692961.1:c.6417G>T	ENSP00000509289.1:p.Ala2139=
ENST00000693677.1:c.705-631G>T	ENSP00000509779.1:n.705-631G>T
ENST00000420124.4:c.6417G>T MANE Select	ENSP00000398837.2:p.Ala2139=
ENST00000673918.1:c.6351G>T	ENSP00000501283.1:p.Ala2117=
ENST00000674114.1:c.3739G>T
ENST00000420124.2:c.6417G>T	ENSP00000398837.1:p.Ala2139=
NM_014727.2:c.6417G>T	NP_055542.1:p.Ala2139=
XM_011527561.1:c.6351G>T	XP_011525863.1:p.Ala2117=
XM_011527562.1:c.6417G>T	XP_011525864.1:p.Ala2139=
XM_011527563.1:c.6141G>T	XP_011525865.1:p.Ala2047=
XM_011527561.2:c.5853G>T	XP_011525863.2:p.Ala1951=
XM_011527562.2:c.6417G>T	XP_011525864.1:p.Ala2139=
XM_017027544.1:c.6417G>T	XP_016883033.1:p.Ala2139=
XM_017027545.1:c.5853G>T	XP_016883034.1:p.Ala1951=
XM_017027546.1:c.3381G>T	XP_016883035.1:p.Ala1127=
NM_014727.3:c.6417G>T MANE Select	NP_055542.1:p.Ala2139=