Canonical Allele Identifier: CA9385676

Gene: KMT2B

Linked Data

• dbSNP Id: rs780450513
• ExAC: 19:36223835 G / A
• gnomAD v2: 19-36223835-G-A
• MyVariant Identifiers: chr19:g.36223835G>A (hg19) ; chr19:g.35732934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732934G>A , CM000681.2:g.35732934G>A	GRCh38
NC_000019.9:g.36223835G>A , CM000681.1:g.36223835G>A	GRCh37
NC_000019.8:g.40915675G>A	NCBI36
NG_052906.1:g.19916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.691G>A
ENST00000673918.2:c.6319G>A	ENSP00000501283.1:p.Ala2107Thr
ENST00000674114.2:c.3926G>A	ENSP00000501039.2:n.3926G>A
ENST00000684977.1:c.1603G>A	ENSP00000509384.1:p.Ala535Thr
ENST00000689544.1:n.1538G>A
ENST00000691421.1:c.1606G>A	ENSP00000508674.1:p.Ala536Thr
ENST00000691855.1:c.5927G>A
ENST00000692961.1:c.6385G>A	ENSP00000509289.1:p.Ala2129Thr
ENST00000693677.1:c.704+605G>A	ENSP00000509779.1:n.704+605G>A
ENST00000420124.4:c.6385G>A MANE Select	ENSP00000398837.2:p.Ala2129Thr
ENST00000673918.1:c.6319G>A	ENSP00000501283.1:p.Ala2107Thr
ENST00000674114.1:c.3707G>A
ENST00000420124.2:c.6385G>A	ENSP00000398837.1:p.Ala2129Thr
NM_014727.2:c.6385G>A	NP_055542.1:p.Ala2129Thr
XM_011527561.1:c.6319G>A	XP_011525863.1:p.Ala2107Thr
XM_011527562.1:c.6385G>A	XP_011525864.1:p.Ala2129Thr
XM_011527563.1:c.6109G>A	XP_011525865.1:p.Ala2037Thr
XM_011527561.2:c.5821G>A	XP_011525863.2:p.Ala1941Thr
XM_011527562.2:c.6385G>A	XP_011525864.1:p.Ala2129Thr
XM_017027544.1:c.6385G>A	XP_016883033.1:p.Ala2129Thr
XM_017027545.1:c.5821G>A	XP_016883034.1:p.Ala1941Thr
XM_017027546.1:c.3349G>A	XP_016883035.1:p.Ala1117Thr
NM_014727.3:c.6385G>A MANE Select	NP_055542.1:p.Ala2129Thr