Canonical Allele Identifier: CA405427451

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732821-T-C
• MyVariant Identifiers: chr19:g.36223722T>C (hg19) ; chr19:g.35732821T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732821T>C , CM000681.2:g.35732821T>C	GRCh38
NC_000019.9:g.36223722T>C , CM000681.1:g.36223722T>C	GRCh37
NC_000019.8:g.40915562T>C	NCBI36
NG_052906.1:g.19803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.578T>C
ENST00000673918.2:c.6206T>C	ENSP00000501283.1:p.Val2069Ala
ENST00000674114.2:c.3813T>C	ENSP00000501039.2:n.3813T>C
ENST00000684977.1:c.1490T>C	ENSP00000509384.1:p.Val497Ala
ENST00000689544.1:n.1425T>C
ENST00000691421.1:c.1493T>C	ENSP00000508674.1:p.Val498Ala
ENST00000691855.1:c.5814T>C
ENST00000692961.1:c.6272T>C	ENSP00000509289.1:p.Val2091Ala
ENST00000693677.1:c.704+492T>C	ENSP00000509779.1:n.704+492T>C
ENST00000420124.4:c.6272T>C MANE Select	ENSP00000398837.2:p.Val2091Ala
ENST00000673918.1:c.6206T>C	ENSP00000501283.1:p.Val2069Ala
ENST00000674114.1:c.3594T>C
ENST00000420124.2:c.6272T>C	ENSP00000398837.1:p.Val2091Ala
NM_014727.2:c.6272T>C	NP_055542.1:p.Val2091Ala
XM_011527561.1:c.6206T>C	XP_011525863.1:p.Val2069Ala
XM_011527562.1:c.6272T>C	XP_011525864.1:p.Val2091Ala
XM_011527563.1:c.5996T>C	XP_011525865.1:p.Val1999Ala
XM_011527561.2:c.5708T>C	XP_011525863.2:p.Val1903Ala
XM_011527562.2:c.6272T>C	XP_011525864.1:p.Val2091Ala
XM_017027544.1:c.6272T>C	XP_016883033.1:p.Val2091Ala
XM_017027545.1:c.5708T>C	XP_016883034.1:p.Val1903Ala
XM_017027546.1:c.3236T>C	XP_016883035.1:p.Val1079Ala
NM_014727.3:c.6272T>C MANE Select	NP_055542.1:p.Val2091Ala