Canonical Allele Identifier: CA405429363

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733129-G-T
• MyVariant Identifiers: chr19:g.36224030G>T (hg19) ; chr19:g.35733129G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733129G>T , CM000681.2:g.35733129G>T	GRCh38
NC_000019.9:g.36224030G>T , CM000681.1:g.36224030G>T	GRCh37
NC_000019.8:g.40915870G>T	NCBI36
NG_052906.1:g.20111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.886G>T
ENST00000673918.2:c.6514G>T	ENSP00000501283.1:p.Val2172Phe
ENST00000674114.2:c.4121G>T	ENSP00000501039.2:n.4121G>T
ENST00000684977.1:c.1798G>T	ENSP00000509384.1:p.Val600Phe
ENST00000689544.1:n.1733G>T
ENST00000691421.1:c.1801G>T	ENSP00000508674.1:p.Val601Phe
ENST00000691855.1:c.6122G>T
ENST00000692961.1:c.6580G>T	ENSP00000509289.1:p.Val2194Phe
ENST00000693677.1:c.705-468G>T	ENSP00000509779.1:n.705-468G>T
ENST00000420124.4:c.6580G>T MANE Select	ENSP00000398837.2:p.Val2194Phe
ENST00000673918.1:c.6514G>T	ENSP00000501283.1:p.Val2172Phe
ENST00000674114.1:c.3902G>T
ENST00000420124.2:c.6580G>T	ENSP00000398837.1:p.Val2194Phe
NM_014727.2:c.6580G>T	NP_055542.1:p.Val2194Phe
XM_011527561.1:c.6514G>T	XP_011525863.1:p.Val2172Phe
XM_011527562.1:c.6580G>T	XP_011525864.1:p.Val2194Phe
XM_011527563.1:c.6304G>T	XP_011525865.1:p.Val2102Phe
XM_011527561.2:c.6016G>T	XP_011525863.2:p.Val2006Phe
XM_011527562.2:c.6580G>T	XP_011525864.1:p.Val2194Phe
XM_017027544.1:c.6580G>T	XP_016883033.1:p.Val2194Phe
XM_017027545.1:c.6016G>T	XP_016883034.1:p.Val2006Phe
XM_017027546.1:c.3544G>T	XP_016883035.1:p.Val1182Phe
NM_014727.3:c.6580G>T MANE Select	NP_055542.1:p.Val2194Phe