Canonical Allele Identifier: CA405428324

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732955-C-T
• MyVariant Identifiers: chr19:g.36223856C>T (hg19) ; chr19:g.35732955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732955C>T , CM000681.2:g.35732955C>T	GRCh38
NC_000019.9:g.36223856C>T , CM000681.1:g.36223856C>T	GRCh37
NC_000019.8:g.40915696C>T	NCBI36
NG_052906.1:g.19937C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.712C>T
ENST00000673918.2:c.6340C>T	ENSP00000501283.1:p.Leu2114Phe
ENST00000674114.2:c.3947C>T	ENSP00000501039.2:n.3947C>T
ENST00000684977.1:c.1624C>T	ENSP00000509384.1:p.Leu542Phe
ENST00000689544.1:n.1559C>T
ENST00000691421.1:c.1627C>T	ENSP00000508674.1:p.Leu543Phe
ENST00000691855.1:c.5948C>T
ENST00000692961.1:c.6406C>T	ENSP00000509289.1:p.Leu2136Phe
ENST00000693677.1:c.704+626C>T	ENSP00000509779.1:n.704+626C>T
ENST00000420124.4:c.6406C>T MANE Select	ENSP00000398837.2:p.Leu2136Phe
ENST00000673918.1:c.6340C>T	ENSP00000501283.1:p.Leu2114Phe
ENST00000674114.1:c.3728C>T
ENST00000420124.2:c.6406C>T	ENSP00000398837.1:p.Leu2136Phe
NM_014727.2:c.6406C>T	NP_055542.1:p.Leu2136Phe
XM_011527561.1:c.6340C>T	XP_011525863.1:p.Leu2114Phe
XM_011527562.1:c.6406C>T	XP_011525864.1:p.Leu2136Phe
XM_011527563.1:c.6130C>T	XP_011525865.1:p.Leu2044Phe
XM_011527561.2:c.5842C>T	XP_011525863.2:p.Leu1948Phe
XM_011527562.2:c.6406C>T	XP_011525864.1:p.Leu2136Phe
XM_017027544.1:c.6406C>T	XP_016883033.1:p.Leu2136Phe
XM_017027545.1:c.5842C>T	XP_016883034.1:p.Leu1948Phe
XM_017027546.1:c.3370C>T	XP_016883035.1:p.Leu1124Phe
NM_014727.3:c.6406C>T MANE Select	NP_055542.1:p.Leu2136Phe