Canonical Allele Identifier: CA507308327

Gene: KMT2B

Linked Data

• dbSNP Id: rs774540661
• gnomAD v3: 19-35732609-G-C
• gnomAD v4: 19-35732609-G-C
• MyVariant Identifiers: chr19:g.36223510G>C (hg19) ; chr19:g.35732609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732609G>C , CM000681.2:g.35732609G>C	GRCh38
NC_000019.9:g.36223510G>C , CM000681.1:g.36223510G>C	GRCh37
NC_000019.8:g.40915350G>C	NCBI36
NG_052906.1:g.19591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.366G>C
ENST00000673918.2:c.5994G>C	ENSP00000501283.1:p.Pro1998=
ENST00000674114.2:c.3601G>C	ENSP00000501039.2:n.3601G>C
ENST00000684977.1:c.1278G>C	ENSP00000509384.1:p.Pro426=
ENST00000689544.1:n.1213G>C
ENST00000691421.1:c.1281G>C	ENSP00000508674.1:p.Pro427=
ENST00000691855.1:c.5602G>C
ENST00000692961.1:c.6060G>C	ENSP00000509289.1:p.Pro2020=
ENST00000693677.1:c.704+280G>C	ENSP00000509779.1:n.704+280G>C
ENST00000420124.4:c.6060G>C MANE Select	ENSP00000398837.2:p.Pro2020=
ENST00000673918.1:c.5994G>C	ENSP00000501283.1:p.Pro1998=
ENST00000674114.1:c.3382G>C
ENST00000420124.2:c.6060G>C	ENSP00000398837.1:p.Pro2020=
NM_014727.2:c.6060G>C	NP_055542.1:p.Pro2020=
XM_011527561.1:c.5994G>C	XP_011525863.1:p.Pro1998=
XM_011527562.1:c.6060G>C	XP_011525864.1:p.Pro2020=
XM_011527563.1:c.5784G>C	XP_011525865.1:p.Pro1928=
XM_011527561.2:c.5496G>C	XP_011525863.2:p.Pro1832=
XM_011527562.2:c.6060G>C	XP_011525864.1:p.Pro2020=
XM_017027544.1:c.6060G>C	XP_016883033.1:p.Pro2020=
XM_017027545.1:c.5496G>C	XP_016883034.1:p.Pro1832=
XM_017027546.1:c.3024G>C	XP_016883035.1:p.Pro1008=
NM_014727.3:c.6060G>C MANE Select	NP_055542.1:p.Pro2020=