Canonical Allele Identifier: CA507072695

Gene: KMT2B

Linked Data

• dbSNP Id: rs1235117319
• gnomAD v2: 19-36221014-C-T
• gnomAD v4: 19-35730113-C-T
• MyVariant Identifiers: chr19:g.36221014C>T (hg19) ; chr19:g.35730113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730113C>T , CM000681.2:g.35730113C>T	GRCh38
NC_000019.9:g.36221014C>T , CM000681.1:g.36221014C>T	GRCh37
NC_000019.8:g.40912854C>T	NCBI36
NG_052906.1:g.17095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4998C>T	ENSP00000501283.1:p.Leu1666=
ENST00000674114.2:c.2605C>T	ENSP00000501039.2:n.2605C>T
ENST00000684977.1:c.282C>T	ENSP00000509384.1:p.Leu94=
ENST00000685168.1:c.490C>T
ENST00000689544.1:n.217C>T
ENST00000691421.1:c.285C>T	ENSP00000508674.1:p.Leu95=
ENST00000691855.1:c.4606C>T
ENST00000692961.1:c.5064C>T	ENSP00000509289.1:p.Leu1688=
ENST00000420124.4:c.5064C>T MANE Select	ENSP00000398837.2:p.Leu1688=
ENST00000673918.1:c.4998C>T	ENSP00000501283.1:p.Leu1666=
ENST00000674114.1:c.2386C>T
ENST00000420124.2:c.5064C>T	ENSP00000398837.1:p.Leu1688=
NM_014727.2:c.5064C>T	NP_055542.1:p.Leu1688=
XM_011527561.1:c.4998C>T	XP_011525863.1:p.Leu1666=
XM_011527562.1:c.5064C>T	XP_011525864.1:p.Leu1688=
XM_011527563.1:c.4788C>T	XP_011525865.1:p.Leu1596=
XM_011527561.2:c.4500C>T	XP_011525863.2:p.Leu1500=
XM_011527562.2:c.5064C>T	XP_011525864.1:p.Leu1688=
XM_017027544.1:c.5064C>T	XP_016883033.1:p.Leu1688=
XM_017027545.1:c.4500C>T	XP_016883034.1:p.Leu1500=
XM_017027546.1:c.2028C>T	XP_016883035.1:p.Leu676=
NM_014727.3:c.5064C>T MANE Select	NP_055542.1:p.Leu1688=