Canonical Allele Identifier: CA405419055

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1031844
• ClinVar RCV Id: RCV001333776
• dbSNP Id: rs1192553029
• gnomAD v2: 19-36220956-C-T
• gnomAD v3: 19-35730055-C-T
• gnomAD v4: 19-35730055-C-T
• MyVariant Identifiers: chr19:g.36220956C>T (hg19) ; chr19:g.35730055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730055C>T , CM000681.2:g.35730055C>T	GRCh38
NC_000019.9:g.36220956C>T , CM000681.1:g.36220956C>T	GRCh37
NC_000019.8:g.40912796C>T	NCBI36
NG_052906.1:g.17037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4940C>T	ENSP00000501283.1:p.Ala1647Val
ENST00000674114.2:c.2547C>T	ENSP00000501039.2:n.2547C>T
ENST00000684977.1:c.224C>T	ENSP00000509384.1:p.Ala75Val
ENST00000685168.1:c.432C>T
ENST00000689544.1:n.159C>T
ENST00000691421.1:c.227C>T	ENSP00000508674.1:p.Ala76Val
ENST00000691855.1:c.4548C>T
ENST00000692961.1:c.5006C>T	ENSP00000509289.1:p.Ala1669Val
ENST00000420124.4:c.5006C>T MANE Select	ENSP00000398837.2:p.Ala1669Val
ENST00000673918.1:c.4940C>T	ENSP00000501283.1:p.Ala1647Val
ENST00000674114.1:c.2328C>T
ENST00000420124.2:c.5006C>T	ENSP00000398837.1:p.Ala1669Val
NM_014727.2:c.5006C>T	NP_055542.1:p.Ala1669Val
XM_011527561.1:c.4940C>T	XP_011525863.1:p.Ala1647Val
XM_011527562.1:c.5006C>T	XP_011525864.1:p.Ala1669Val
XM_011527563.1:c.4730C>T	XP_011525865.1:p.Ala1577Val
XM_011527561.2:c.4442C>T	XP_011525863.2:p.Ala1481Val
XM_011527562.2:c.5006C>T	XP_011525864.1:p.Ala1669Val
XM_017027544.1:c.5006C>T	XP_016883033.1:p.Ala1669Val
XM_017027545.1:c.4442C>T	XP_016883034.1:p.Ala1481Val
XM_017027546.1:c.1970C>T	XP_016883035.1:p.Ala657Val
NM_014727.3:c.5006C>T MANE Select	NP_055542.1:p.Ala1669Val