Canonical Allele Identifier: CA507308716

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733684-T-C
• MyVariant Identifiers: chr19:g.36224585T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733684T>C , CM000681.2:g.35733684T>C	GRCh38
NC_000019.9:g.36224585T>C , CM000681.1:g.36224585T>C	GRCh37
NC_000019.8:g.40916425T>C	NCBI36
NG_052906.1:g.20666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.1441T>C
ENST00000673918.2:c.6981T>C	ENSP00000501283.1:p.Pro2327=
ENST00000674114.2:c.4588T>C	ENSP00000501039.2:n.4588T>C
ENST00000684977.1:c.2242T>C	ENSP00000509384.1:n.2242T>C
ENST00000689544.1:n.2288T>C
ENST00000691421.1:c.2181-79T>C	ENSP00000508674.1:n.2181-79T>C
ENST00000691855.1:c.6589T>C
ENST00000692961.1:c.6960-65T>C	ENSP00000509289.1:n.6960-65T>C
ENST00000693677.1:c.792T>C	ENSP00000509779.1:p.Pro264=
ENST00000420124.4:c.7047T>C MANE Select	ENSP00000398837.2:p.Pro2349=
ENST00000673918.1:c.6981T>C	ENSP00000501283.1:p.Pro2327=
ENST00000674114.1:c.4369T>C
ENST00000420124.2:c.7047T>C	ENSP00000398837.1:p.Pro2349=
ENST00000592092.1:n.427T>C
NM_014727.2:c.7047T>C	NP_055542.1:p.Pro2349=
XM_011527561.1:c.6981T>C	XP_011525863.1:p.Pro2327=
XM_011527562.1:c.7047T>C	XP_011525864.1:p.Pro2349=
XM_011527563.1:c.6771T>C	XP_011525865.1:p.Pro2257=
XM_011527561.2:c.6483T>C	XP_011525863.2:p.Pro2161=
XM_011527562.2:c.7047T>C	XP_011525864.1:p.Pro2349=
XM_017027544.1:c.6960-79T>C	XP_016883033.1:n.6960-79T>C
XM_017027545.1:c.6483T>C	XP_016883034.1:p.Pro2161=
XM_017027546.1:c.4011T>C	XP_016883035.1:p.Pro1337=
NM_014727.3:c.7047T>C MANE Select	NP_055542.1:p.Pro2349=