Canonical Allele Identifier: CA405428712

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733021-G-T
• MyVariant Identifiers: chr19:g.36223922G>T (hg19) ; chr19:g.35733021G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733021G>T , CM000681.2:g.35733021G>T	GRCh38
NC_000019.9:g.36223922G>T , CM000681.1:g.36223922G>T	GRCh37
NC_000019.8:g.40915762G>T	NCBI36
NG_052906.1:g.20003G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.778G>T
ENST00000673918.2:c.6406G>T	ENSP00000501283.1:p.Asp2136Tyr
ENST00000674114.2:c.4013G>T	ENSP00000501039.2:n.4013G>T
ENST00000684977.1:c.1690G>T	ENSP00000509384.1:p.Asp564Tyr
ENST00000689544.1:n.1625G>T
ENST00000691421.1:c.1693G>T	ENSP00000508674.1:p.Asp565Tyr
ENST00000691855.1:c.6014G>T
ENST00000692961.1:c.6472G>T	ENSP00000509289.1:p.Asp2158Tyr
ENST00000693677.1:c.705-576G>T	ENSP00000509779.1:n.705-576G>T
ENST00000420124.4:c.6472G>T MANE Select	ENSP00000398837.2:p.Asp2158Tyr
ENST00000673918.1:c.6406G>T	ENSP00000501283.1:p.Asp2136Tyr
ENST00000674114.1:c.3794G>T
ENST00000420124.2:c.6472G>T	ENSP00000398837.1:p.Asp2158Tyr
NM_014727.2:c.6472G>T	NP_055542.1:p.Asp2158Tyr
XM_011527561.1:c.6406G>T	XP_011525863.1:p.Asp2136Tyr
XM_011527562.1:c.6472G>T	XP_011525864.1:p.Asp2158Tyr
XM_011527563.1:c.6196G>T	XP_011525865.1:p.Asp2066Tyr
XM_011527561.2:c.5908G>T	XP_011525863.2:p.Asp1970Tyr
XM_011527562.2:c.6472G>T	XP_011525864.1:p.Asp2158Tyr
XM_017027544.1:c.6472G>T	XP_016883033.1:p.Asp2158Tyr
XM_017027545.1:c.5908G>T	XP_016883034.1:p.Asp1970Tyr
XM_017027546.1:c.3436G>T	XP_016883035.1:p.Asp1146Tyr
NM_014727.3:c.6472G>T MANE Select	NP_055542.1:p.Asp2158Tyr