Canonical Allele Identifier: CA507309113

Gene: KMT2B

Linked Data

• dbSNP Id: rs1182430434
• gnomAD v2: 19-36223933-C-T
• gnomAD v4: 19-35733032-C-T
• MyVariant Identifiers: chr19:g.36223933C>T (hg19) ; chr19:g.35733032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733032C>T , CM000681.2:g.35733032C>T	GRCh38
NC_000019.9:g.36223933C>T , CM000681.1:g.36223933C>T	GRCh37
NC_000019.8:g.40915773C>T	NCBI36
NG_052906.1:g.20014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.789C>T
ENST00000673918.2:c.6417C>T	ENSP00000501283.1:p.Arg2139=
ENST00000674114.2:c.4024C>T	ENSP00000501039.2:n.4024C>T
ENST00000684977.1:c.1701C>T	ENSP00000509384.1:p.Arg567=
ENST00000689544.1:n.1636C>T
ENST00000691421.1:c.1704C>T	ENSP00000508674.1:p.Arg568=
ENST00000691855.1:c.6025C>T
ENST00000692961.1:c.6483C>T	ENSP00000509289.1:p.Arg2161=
ENST00000693677.1:c.705-565C>T	ENSP00000509779.1:n.705-565C>T
ENST00000420124.4:c.6483C>T MANE Select	ENSP00000398837.2:p.Arg2161=
ENST00000673918.1:c.6417C>T	ENSP00000501283.1:p.Arg2139=
ENST00000674114.1:c.3805C>T
ENST00000420124.2:c.6483C>T	ENSP00000398837.1:p.Arg2161=
NM_014727.2:c.6483C>T	NP_055542.1:p.Arg2161=
XM_011527561.1:c.6417C>T	XP_011525863.1:p.Arg2139=
XM_011527562.1:c.6483C>T	XP_011525864.1:p.Arg2161=
XM_011527563.1:c.6207C>T	XP_011525865.1:p.Arg2069=
XM_011527561.2:c.5919C>T	XP_011525863.2:p.Arg1973=
XM_011527562.2:c.6483C>T	XP_011525864.1:p.Arg2161=
XM_017027544.1:c.6483C>T	XP_016883033.1:p.Arg2161=
XM_017027545.1:c.5919C>T	XP_016883034.1:p.Arg1973=
XM_017027546.1:c.3447C>T	XP_016883035.1:p.Arg1149=
NM_014727.3:c.6483C>T MANE Select	NP_055542.1:p.Arg2161=