Canonical Allele Identifier: CA405425065

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732547-A-C
• MyVariant Identifiers: chr19:g.36223448A>C (hg19) ; chr19:g.35732547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732547A>C , CM000681.2:g.35732547A>C	GRCh38
NC_000019.9:g.36223448A>C , CM000681.1:g.36223448A>C	GRCh37
NC_000019.8:g.40915288A>C	NCBI36
NG_052906.1:g.19529A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.304A>C
ENST00000673918.2:c.5932A>C	ENSP00000501283.1:p.Thr1978Pro
ENST00000674114.2:c.3539A>C	ENSP00000501039.2:n.3539A>C
ENST00000684977.1:c.1216A>C	ENSP00000509384.1:p.Thr406Pro
ENST00000689544.1:n.1151A>C
ENST00000691421.1:c.1219A>C	ENSP00000508674.1:p.Thr407Pro
ENST00000691855.1:c.5540A>C
ENST00000692961.1:c.5998A>C	ENSP00000509289.1:p.Thr2000Pro
ENST00000693677.1:c.704+218A>C	ENSP00000509779.1:n.704+218A>C
ENST00000420124.4:c.5998A>C MANE Select	ENSP00000398837.2:p.Thr2000Pro
ENST00000673918.1:c.5932A>C	ENSP00000501283.1:p.Thr1978Pro
ENST00000674114.1:c.3320A>C
ENST00000420124.2:c.5998A>C	ENSP00000398837.1:p.Thr2000Pro
NM_014727.2:c.5998A>C	NP_055542.1:p.Thr2000Pro
XM_011527561.1:c.5932A>C	XP_011525863.1:p.Thr1978Pro
XM_011527562.1:c.5998A>C	XP_011525864.1:p.Thr2000Pro
XM_011527563.1:c.5722A>C	XP_011525865.1:p.Thr1908Pro
XM_011527561.2:c.5434A>C	XP_011525863.2:p.Thr1812Pro
XM_011527562.2:c.5998A>C	XP_011525864.1:p.Thr2000Pro
XM_017027544.1:c.5998A>C	XP_016883033.1:p.Thr2000Pro
XM_017027545.1:c.5434A>C	XP_016883034.1:p.Thr1812Pro
XM_017027546.1:c.2962A>C	XP_016883035.1:p.Thr988Pro
NM_014727.3:c.5998A>C MANE Select	NP_055542.1:p.Thr2000Pro