Canonical Allele Identifier: CA405428652

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733010-C-T
• MyVariant Identifiers: chr19:g.36223911C>T (hg19) ; chr19:g.35733010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733010C>T , CM000681.2:g.35733010C>T	GRCh38
NC_000019.9:g.36223911C>T , CM000681.1:g.36223911C>T	GRCh37
NC_000019.8:g.40915751C>T	NCBI36
NG_052906.1:g.19992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.767C>T
ENST00000673918.2:c.6395C>T	ENSP00000501283.1:p.Ala2132Val
ENST00000674114.2:c.4002C>T	ENSP00000501039.2:n.4002C>T
ENST00000684977.1:c.1679C>T	ENSP00000509384.1:p.Ala560Val
ENST00000689544.1:n.1614C>T
ENST00000691421.1:c.1682C>T	ENSP00000508674.1:p.Ala561Val
ENST00000691855.1:c.6003C>T
ENST00000692961.1:c.6461C>T	ENSP00000509289.1:p.Ala2154Val
ENST00000693677.1:c.705-587C>T	ENSP00000509779.1:n.705-587C>T
ENST00000420124.4:c.6461C>T MANE Select	ENSP00000398837.2:p.Ala2154Val
ENST00000673918.1:c.6395C>T	ENSP00000501283.1:p.Ala2132Val
ENST00000674114.1:c.3783C>T
ENST00000420124.2:c.6461C>T	ENSP00000398837.1:p.Ala2154Val
NM_014727.2:c.6461C>T	NP_055542.1:p.Ala2154Val
XM_011527561.1:c.6395C>T	XP_011525863.1:p.Ala2132Val
XM_011527562.1:c.6461C>T	XP_011525864.1:p.Ala2154Val
XM_011527563.1:c.6185C>T	XP_011525865.1:p.Ala2062Val
XM_011527561.2:c.5897C>T	XP_011525863.2:p.Ala1966Val
XM_011527562.2:c.6461C>T	XP_011525864.1:p.Ala2154Val
XM_017027544.1:c.6461C>T	XP_016883033.1:p.Ala2154Val
XM_017027545.1:c.5897C>T	XP_016883034.1:p.Ala1966Val
XM_017027546.1:c.3425C>T	XP_016883035.1:p.Ala1142Val
NM_014727.3:c.6461C>T MANE Select	NP_055542.1:p.Ala2154Val