Canonical Allele Identifier: CA405425720

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223565G>C (hg19) ; chr19:g.35732664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732664G>C , CM000681.2:g.35732664G>C	GRCh38
NC_000019.9:g.36223565G>C , CM000681.1:g.36223565G>C	GRCh37
NC_000019.8:g.40915405G>C	NCBI36
NG_052906.1:g.19646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.421G>C
ENST00000673918.2:c.6049G>C	ENSP00000501283.1:p.Val2017Leu
ENST00000674114.2:c.3656G>C	ENSP00000501039.2:n.3656G>C
ENST00000684977.1:c.1333G>C	ENSP00000509384.1:p.Val445Leu
ENST00000689544.1:n.1268G>C
ENST00000691421.1:c.1336G>C	ENSP00000508674.1:p.Val446Leu
ENST00000691855.1:c.5657G>C
ENST00000692961.1:c.6115G>C	ENSP00000509289.1:p.Val2039Leu
ENST00000693677.1:c.704+335G>C	ENSP00000509779.1:n.704+335G>C
ENST00000420124.4:c.6115G>C MANE Select	ENSP00000398837.2:p.Val2039Leu
ENST00000673918.1:c.6049G>C	ENSP00000501283.1:p.Val2017Leu
ENST00000674114.1:c.3437G>C
ENST00000420124.2:c.6115G>C	ENSP00000398837.1:p.Val2039Leu
NM_014727.2:c.6115G>C	NP_055542.1:p.Val2039Leu
XM_011527561.1:c.6049G>C	XP_011525863.1:p.Val2017Leu
XM_011527562.1:c.6115G>C	XP_011525864.1:p.Val2039Leu
XM_011527563.1:c.5839G>C	XP_011525865.1:p.Val1947Leu
XM_011527561.2:c.5551G>C	XP_011525863.2:p.Val1851Leu
XM_011527562.2:c.6115G>C	XP_011525864.1:p.Val2039Leu
XM_017027544.1:c.6115G>C	XP_016883033.1:p.Val2039Leu
XM_017027545.1:c.5551G>C	XP_016883034.1:p.Val1851Leu
XM_017027546.1:c.3079G>C	XP_016883035.1:p.Val1027Leu
NM_014727.3:c.6115G>C MANE Select	NP_055542.1:p.Val2039Leu