Canonical Allele Identifier: CA405428617

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733004-T-C
• MyVariant Identifiers: chr19:g.36223905T>C (hg19) ; chr19:g.35733004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733004T>C , CM000681.2:g.35733004T>C	GRCh38
NC_000019.9:g.36223905T>C , CM000681.1:g.36223905T>C	GRCh37
NC_000019.8:g.40915745T>C	NCBI36
NG_052906.1:g.19986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.761T>C
ENST00000673918.2:c.6389T>C	ENSP00000501283.1:p.Leu2130Pro
ENST00000674114.2:c.3996T>C	ENSP00000501039.2:n.3996T>C
ENST00000684977.1:c.1673T>C	ENSP00000509384.1:p.Leu558Pro
ENST00000689544.1:n.1608T>C
ENST00000691421.1:c.1676T>C	ENSP00000508674.1:p.Leu559Pro
ENST00000691855.1:c.5997T>C
ENST00000692961.1:c.6455T>C	ENSP00000509289.1:p.Leu2152Pro
ENST00000693677.1:c.705-593T>C	ENSP00000509779.1:n.705-593T>C
ENST00000420124.4:c.6455T>C MANE Select	ENSP00000398837.2:p.Leu2152Pro
ENST00000673918.1:c.6389T>C	ENSP00000501283.1:p.Leu2130Pro
ENST00000674114.1:c.3777T>C
ENST00000420124.2:c.6455T>C	ENSP00000398837.1:p.Leu2152Pro
NM_014727.2:c.6455T>C	NP_055542.1:p.Leu2152Pro
XM_011527561.1:c.6389T>C	XP_011525863.1:p.Leu2130Pro
XM_011527562.1:c.6455T>C	XP_011525864.1:p.Leu2152Pro
XM_011527563.1:c.6179T>C	XP_011525865.1:p.Leu2060Pro
XM_011527561.2:c.5891T>C	XP_011525863.2:p.Leu1964Pro
XM_011527562.2:c.6455T>C	XP_011525864.1:p.Leu2152Pro
XM_017027544.1:c.6455T>C	XP_016883033.1:p.Leu2152Pro
XM_017027545.1:c.5891T>C	XP_016883034.1:p.Leu1964Pro
XM_017027546.1:c.3419T>C	XP_016883035.1:p.Leu1140Pro
NM_014727.3:c.6455T>C MANE Select	NP_055542.1:p.Leu2152Pro