Canonical Allele Identifier: CA405428337

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732956-T-G
• MyVariant Identifiers: chr19:g.36223857T>G (hg19) ; chr19:g.35732956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732956T>G , CM000681.2:g.35732956T>G	GRCh38
NC_000019.9:g.36223857T>G , CM000681.1:g.36223857T>G	GRCh37
NC_000019.8:g.40915697T>G	NCBI36
NG_052906.1:g.19938T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.713T>G
ENST00000673918.2:c.6341T>G	ENSP00000501283.1:p.Leu2114Arg
ENST00000674114.2:c.3948T>G	ENSP00000501039.2:n.3948T>G
ENST00000684977.1:c.1625T>G	ENSP00000509384.1:p.Leu542Arg
ENST00000689544.1:n.1560T>G
ENST00000691421.1:c.1628T>G	ENSP00000508674.1:p.Leu543Arg
ENST00000691855.1:c.5949T>G
ENST00000692961.1:c.6407T>G	ENSP00000509289.1:p.Leu2136Arg
ENST00000693677.1:c.704+627T>G	ENSP00000509779.1:n.704+627T>G
ENST00000420124.4:c.6407T>G MANE Select	ENSP00000398837.2:p.Leu2136Arg
ENST00000673918.1:c.6341T>G	ENSP00000501283.1:p.Leu2114Arg
ENST00000674114.1:c.3729T>G
ENST00000420124.2:c.6407T>G	ENSP00000398837.1:p.Leu2136Arg
NM_014727.2:c.6407T>G	NP_055542.1:p.Leu2136Arg
XM_011527561.1:c.6341T>G	XP_011525863.1:p.Leu2114Arg
XM_011527562.1:c.6407T>G	XP_011525864.1:p.Leu2136Arg
XM_011527563.1:c.6131T>G	XP_011525865.1:p.Leu2044Arg
XM_011527561.2:c.5843T>G	XP_011525863.2:p.Leu1948Arg
XM_011527562.2:c.6407T>G	XP_011525864.1:p.Leu2136Arg
XM_017027544.1:c.6407T>G	XP_016883033.1:p.Leu2136Arg
XM_017027545.1:c.5843T>G	XP_016883034.1:p.Leu1948Arg
XM_017027546.1:c.3371T>G	XP_016883035.1:p.Leu1124Arg
NM_014727.3:c.6407T>G MANE Select	NP_055542.1:p.Leu2136Arg