Canonical Allele Identifier: CA405419268

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220988G>T (hg19) ; chr19:g.35730087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730087G>T , CM000681.2:g.35730087G>T	GRCh38
NC_000019.9:g.36220988G>T , CM000681.1:g.36220988G>T	GRCh37
NC_000019.8:g.40912828G>T	NCBI36
NG_052906.1:g.17069G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4972G>T	ENSP00000501283.1:p.Val1658Phe
ENST00000674114.2:c.2579G>T	ENSP00000501039.2:n.2579G>T
ENST00000684977.1:c.256G>T	ENSP00000509384.1:p.Val86Phe
ENST00000685168.1:c.464G>T
ENST00000689544.1:n.191G>T
ENST00000691421.1:c.259G>T	ENSP00000508674.1:p.Val87Phe
ENST00000691855.1:c.4580G>T
ENST00000692961.1:c.5038G>T	ENSP00000509289.1:p.Val1680Phe
ENST00000420124.4:c.5038G>T MANE Select	ENSP00000398837.2:p.Val1680Phe
ENST00000673918.1:c.4972G>T	ENSP00000501283.1:p.Val1658Phe
ENST00000674114.1:c.2360G>T
ENST00000420124.2:c.5038G>T	ENSP00000398837.1:p.Val1680Phe
NM_014727.2:c.5038G>T	NP_055542.1:p.Val1680Phe
XM_011527561.1:c.4972G>T	XP_011525863.1:p.Val1658Phe
XM_011527562.1:c.5038G>T	XP_011525864.1:p.Val1680Phe
XM_011527563.1:c.4762G>T	XP_011525865.1:p.Val1588Phe
XM_011527561.2:c.4474G>T	XP_011525863.2:p.Val1492Phe
XM_011527562.2:c.5038G>T	XP_011525864.1:p.Val1680Phe
XM_017027544.1:c.5038G>T	XP_016883033.1:p.Val1680Phe
XM_017027545.1:c.4474G>T	XP_016883034.1:p.Val1492Phe
XM_017027546.1:c.2002G>T	XP_016883035.1:p.Val668Phe
NM_014727.3:c.5038G>T MANE Select	NP_055542.1:p.Val1680Phe