Canonical Allele Identifier: CA507308080

Gene: KMT2B

Linked Data

• dbSNP Id: rs2146467759
• gnomAD v4: 19-35732471-C-T
• MyVariant Identifiers: chr19:g.36223372C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732471C>T , CM000681.2:g.35732471C>T	GRCh38
NC_000019.9:g.36223372C>T , CM000681.1:g.36223372C>T	GRCh37
NC_000019.8:g.40915212C>T	NCBI36
NG_052906.1:g.19453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.228C>T
ENST00000673918.2:c.5856C>T	ENSP00000501283.1:p.Gly1952=
ENST00000674114.2:c.3463C>T	ENSP00000501039.2:n.3463C>T
ENST00000684977.1:c.1140C>T	ENSP00000509384.1:p.Gly380=
ENST00000689544.1:n.1075C>T
ENST00000691421.1:c.1143C>T	ENSP00000508674.1:p.Gly381=
ENST00000691855.1:c.5464C>T
ENST00000692961.1:c.5922C>T	ENSP00000509289.1:p.Gly1974=
ENST00000693677.1:c.704+142C>T	ENSP00000509779.1:n.704+142C>T
ENST00000420124.4:c.5922C>T MANE Select	ENSP00000398837.2:p.Gly1974=
ENST00000673918.1:c.5856C>T	ENSP00000501283.1:p.Gly1952=
ENST00000674114.1:c.3244C>T
ENST00000420124.2:c.5922C>T	ENSP00000398837.1:p.Gly1974=
NM_014727.2:c.5922C>T	NP_055542.1:p.Gly1974=
XM_011527561.1:c.5856C>T	XP_011525863.1:p.Gly1952=
XM_011527562.1:c.5922C>T	XP_011525864.1:p.Gly1974=
XM_011527563.1:c.5646C>T	XP_011525865.1:p.Gly1882=
XM_011527561.2:c.5358C>T	XP_011525863.2:p.Gly1786=
XM_011527562.2:c.5922C>T	XP_011525864.1:p.Gly1974=
XM_017027544.1:c.5922C>T	XP_016883033.1:p.Gly1974=
XM_017027545.1:c.5358C>T	XP_016883034.1:p.Gly1786=
XM_017027546.1:c.2886C>T	XP_016883035.1:p.Gly962=
NM_014727.3:c.5922C>T MANE Select	NP_055542.1:p.Gly1974=