Canonical Allele Identifier: CA507308927

Gene: KMT2B

Linked Data

• gnomAD v3: 19-35733203-A-C
• gnomAD v4: 19-35733203-A-C
• MyVariant Identifiers: chr19:g.36224104A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733203A>C , CM000681.2:g.35733203A>C	GRCh38
NC_000019.9:g.36224104A>C , CM000681.1:g.36224104A>C	GRCh37
NC_000019.8:g.40915944A>C	NCBI36
NG_052906.1:g.20185A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.960A>C
ENST00000673918.2:c.6588A>C	ENSP00000501283.1:p.Pro2196=
ENST00000674114.2:c.4195A>C	ENSP00000501039.2:n.4195A>C
ENST00000684977.1:c.1872A>C	ENSP00000509384.1:p.Pro624=
ENST00000689544.1:n.1807A>C
ENST00000691421.1:c.1875A>C	ENSP00000508674.1:p.Pro625=
ENST00000691855.1:c.6196A>C
ENST00000692961.1:c.6654A>C	ENSP00000509289.1:p.Pro2218=
ENST00000693677.1:c.705-394A>C	ENSP00000509779.1:n.705-394A>C
ENST00000420124.4:c.6654A>C MANE Select	ENSP00000398837.2:p.Pro2218=
ENST00000673918.1:c.6588A>C	ENSP00000501283.1:p.Pro2196=
ENST00000674114.1:c.3976A>C
ENST00000420124.2:c.6654A>C	ENSP00000398837.1:p.Pro2218=
NM_014727.2:c.6654A>C	NP_055542.1:p.Pro2218=
XM_011527561.1:c.6588A>C	XP_011525863.1:p.Pro2196=
XM_011527562.1:c.6654A>C	XP_011525864.1:p.Pro2218=
XM_011527563.1:c.6378A>C	XP_011525865.1:p.Pro2126=
XM_011527561.2:c.6090A>C	XP_011525863.2:p.Pro2030=
XM_011527562.2:c.6654A>C	XP_011525864.1:p.Pro2218=
XM_017027544.1:c.6654A>C	XP_016883033.1:p.Pro2218=
XM_017027545.1:c.6090A>C	XP_016883034.1:p.Pro2030=
XM_017027546.1:c.3618A>C	XP_016883035.1:p.Pro1206=
NM_014727.3:c.6654A>C MANE Select	NP_055542.1:p.Pro2218=