Canonical Allele Identifier: CA405428875

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223945G>T (hg19) ; chr19:g.35733044G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733044G>T , CM000681.2:g.35733044G>T	GRCh38
NC_000019.9:g.36223945G>T , CM000681.1:g.36223945G>T	GRCh37
NC_000019.8:g.40915785G>T	NCBI36
NG_052906.1:g.20026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.801G>T
ENST00000673918.2:c.6429G>T	ENSP00000501283.1:p.Trp2143Cys
ENST00000674114.2:c.4036G>T	ENSP00000501039.2:n.4036G>T
ENST00000684977.1:c.1713G>T	ENSP00000509384.1:p.Trp571Cys
ENST00000689544.1:n.1648G>T
ENST00000691421.1:c.1716G>T	ENSP00000508674.1:p.Trp572Cys
ENST00000691855.1:c.6037G>T
ENST00000692961.1:c.6495G>T	ENSP00000509289.1:p.Trp2165Cys
ENST00000693677.1:c.705-553G>T	ENSP00000509779.1:n.705-553G>T
ENST00000420124.4:c.6495G>T MANE Select	ENSP00000398837.2:p.Trp2165Cys
ENST00000673918.1:c.6429G>T	ENSP00000501283.1:p.Trp2143Cys
ENST00000674114.1:c.3817G>T
ENST00000420124.2:c.6495G>T	ENSP00000398837.1:p.Trp2165Cys
NM_014727.2:c.6495G>T	NP_055542.1:p.Trp2165Cys
XM_011527561.1:c.6429G>T	XP_011525863.1:p.Trp2143Cys
XM_011527562.1:c.6495G>T	XP_011525864.1:p.Trp2165Cys
XM_011527563.1:c.6219G>T	XP_011525865.1:p.Trp2073Cys
XM_011527561.2:c.5931G>T	XP_011525863.2:p.Trp1977Cys
XM_011527562.2:c.6495G>T	XP_011525864.1:p.Trp2165Cys
XM_017027544.1:c.6495G>T	XP_016883033.1:p.Trp2165Cys
XM_017027545.1:c.5931G>T	XP_016883034.1:p.Trp1977Cys
XM_017027546.1:c.3459G>T	XP_016883035.1:p.Trp1153Cys
NM_014727.3:c.6495G>T MANE Select	NP_055542.1:p.Trp2165Cys