Canonical Allele Identifier: CA507308375

Gene: KMT2B

Linked Data

• dbSNP Id: rs1281475604
• gnomAD v2: 19-36223531-G-A
• gnomAD v4: 19-35732630-G-A
• MyVariant Identifiers: chr19:g.36223531G>A (hg19) ; chr19:g.35732630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732630G>A , CM000681.2:g.35732630G>A	GRCh38
NC_000019.9:g.36223531G>A , CM000681.1:g.36223531G>A	GRCh37
NC_000019.8:g.40915371G>A	NCBI36
NG_052906.1:g.19612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.387G>A
ENST00000673918.2:c.6015G>A	ENSP00000501283.1:p.Glu2005=
ENST00000674114.2:c.3622G>A	ENSP00000501039.2:n.3622G>A
ENST00000684977.1:c.1299G>A	ENSP00000509384.1:p.Glu433=
ENST00000689544.1:n.1234G>A
ENST00000691421.1:c.1302G>A	ENSP00000508674.1:p.Glu434=
ENST00000691855.1:c.5623G>A
ENST00000692961.1:c.6081G>A	ENSP00000509289.1:p.Glu2027=
ENST00000693677.1:c.704+301G>A	ENSP00000509779.1:n.704+301G>A
ENST00000420124.4:c.6081G>A MANE Select	ENSP00000398837.2:p.Glu2027=
ENST00000673918.1:c.6015G>A	ENSP00000501283.1:p.Glu2005=
ENST00000674114.1:c.3403G>A
ENST00000420124.2:c.6081G>A	ENSP00000398837.1:p.Glu2027=
NM_014727.2:c.6081G>A	NP_055542.1:p.Glu2027=
XM_011527561.1:c.6015G>A	XP_011525863.1:p.Glu2005=
XM_011527562.1:c.6081G>A	XP_011525864.1:p.Glu2027=
XM_011527563.1:c.5805G>A	XP_011525865.1:p.Glu1935=
XM_011527561.2:c.5517G>A	XP_011525863.2:p.Glu1839=
XM_011527562.2:c.6081G>A	XP_011525864.1:p.Glu2027=
XM_017027544.1:c.6081G>A	XP_016883033.1:p.Glu2027=
XM_017027545.1:c.5517G>A	XP_016883034.1:p.Glu1839=
XM_017027546.1:c.3045G>A	XP_016883035.1:p.Glu1015=
NM_014727.3:c.6081G>A MANE Select	NP_055542.1:p.Glu2027=