Canonical Allele Identifier: CA405428380

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223865G>A (hg19) ; chr19:g.35732964G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732964G>A , CM000681.2:g.35732964G>A	GRCh38
NC_000019.9:g.36223865G>A , CM000681.1:g.36223865G>A	GRCh37
NC_000019.8:g.40915705G>A	NCBI36
NG_052906.1:g.19946G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.721G>A
ENST00000673918.2:c.6349G>A	ENSP00000501283.1:p.Ala2117Thr
ENST00000674114.2:c.3956G>A	ENSP00000501039.2:n.3956G>A
ENST00000684977.1:c.1633G>A	ENSP00000509384.1:p.Ala545Thr
ENST00000689544.1:n.1568G>A
ENST00000691421.1:c.1636G>A	ENSP00000508674.1:p.Ala546Thr
ENST00000691855.1:c.5957G>A
ENST00000692961.1:c.6415G>A	ENSP00000509289.1:p.Ala2139Thr
ENST00000693677.1:c.705-633G>A	ENSP00000509779.1:n.705-633G>A
ENST00000420124.4:c.6415G>A MANE Select	ENSP00000398837.2:p.Ala2139Thr
ENST00000673918.1:c.6349G>A	ENSP00000501283.1:p.Ala2117Thr
ENST00000674114.1:c.3737G>A
ENST00000420124.2:c.6415G>A	ENSP00000398837.1:p.Ala2139Thr
NM_014727.2:c.6415G>A	NP_055542.1:p.Ala2139Thr
XM_011527561.1:c.6349G>A	XP_011525863.1:p.Ala2117Thr
XM_011527562.1:c.6415G>A	XP_011525864.1:p.Ala2139Thr
XM_011527563.1:c.6139G>A	XP_011525865.1:p.Ala2047Thr
XM_011527561.2:c.5851G>A	XP_011525863.2:p.Ala1951Thr
XM_011527562.2:c.6415G>A	XP_011525864.1:p.Ala2139Thr
XM_017027544.1:c.6415G>A	XP_016883033.1:p.Ala2139Thr
XM_017027545.1:c.5851G>A	XP_016883034.1:p.Ala1951Thr
XM_017027546.1:c.3379G>A	XP_016883035.1:p.Ala1127Thr
NM_014727.3:c.6415G>A MANE Select	NP_055542.1:p.Ala2139Thr