Canonical Allele Identifier: CA405428767

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733028-C-T
• COSMIC: COSM995161
• MyVariant Identifiers: chr19:g.36223929C>T (hg19) ; chr19:g.35733028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733028C>T , CM000681.2:g.35733028C>T	GRCh38
NC_000019.9:g.36223929C>T , CM000681.1:g.36223929C>T	GRCh37
NC_000019.8:g.40915769C>T	NCBI36
NG_052906.1:g.20010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.785C>T
ENST00000673918.2:c.6413C>T	ENSP00000501283.1:p.Thr2138Ile
ENST00000674114.2:c.4020C>T	ENSP00000501039.2:n.4020C>T
ENST00000684977.1:c.1697C>T	ENSP00000509384.1:p.Thr566Ile
ENST00000689544.1:n.1632C>T
ENST00000691421.1:c.1700C>T	ENSP00000508674.1:p.Thr567Ile
ENST00000691855.1:c.6021C>T
ENST00000692961.1:c.6479C>T	ENSP00000509289.1:p.Thr2160Ile
ENST00000693677.1:c.705-569C>T	ENSP00000509779.1:n.705-569C>T
ENST00000420124.4:c.6479C>T MANE Select	ENSP00000398837.2:p.Thr2160Ile
ENST00000673918.1:c.6413C>T	ENSP00000501283.1:p.Thr2138Ile
ENST00000674114.1:c.3801C>T
ENST00000420124.2:c.6479C>T	ENSP00000398837.1:p.Thr2160Ile
NM_014727.2:c.6479C>T	NP_055542.1:p.Thr2160Ile
XM_011527561.1:c.6413C>T	XP_011525863.1:p.Thr2138Ile
XM_011527562.1:c.6479C>T	XP_011525864.1:p.Thr2160Ile
XM_011527563.1:c.6203C>T	XP_011525865.1:p.Thr2068Ile
XM_011527561.2:c.5915C>T	XP_011525863.2:p.Thr1972Ile
XM_011527562.2:c.6479C>T	XP_011525864.1:p.Thr2160Ile
XM_017027544.1:c.6479C>T	XP_016883033.1:p.Thr2160Ile
XM_017027545.1:c.5915C>T	XP_016883034.1:p.Thr1972Ile
XM_017027546.1:c.3443C>T	XP_016883035.1:p.Thr1148Ile
NM_014727.3:c.6479C>T MANE Select	NP_055542.1:p.Thr2160Ile