Canonical Allele Identifier: CA2584575358

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733718-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733718C>G , CM000681.2:g.35733718C>G	GRCh38
NC_000019.9:g.36224619C>G , CM000681.1:g.36224619C>G	GRCh37
NC_000019.8:g.40916459C>G	NCBI36
NG_052906.1:g.20700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.1475C>G
ENST00000673918.2:c.6983+32C>G	ENSP00000501283.1:n.6983+32C>G
ENST00000674114.2:c.4590+32C>G	ENSP00000501039.2:n.4590+32C>G
ENST00000684977.1:c.2244+32C>G	ENSP00000509384.1:n.2244+32C>G
ENST00000689544.1:n.2290+32C>G
ENST00000691421.1:c.2181-45C>G	ENSP00000508674.1:n.2181-45C>G
ENST00000691855.1:c.6591+32C>G
ENST00000692961.1:c.6960-31C>G	ENSP00000509289.1:n.6960-31C>G
ENST00000693677.1:c.794+32C>G	ENSP00000509779.1:n.794+32C>G
ENST00000420124.4:c.7049+32C>G MANE Select	ENSP00000398837.2:n.7049+32C>G
ENST00000673918.1:c.6983+32C>G	ENSP00000501283.1:n.6983+32C>G
ENST00000674114.1:c.4371+32C>G
ENST00000420124.2:c.7049+32C>G	ENSP00000398837.1:n.7049+32C>G
ENST00000592092.1:n.429+32C>G
NM_014727.2:c.7049+32C>G	NP_055542.1:n.7049+32C>G
XM_011527561.1:c.6983+32C>G	XP_011525863.1:n.6983+32C>G
XM_011527562.1:c.7049+32C>G	XP_011525864.1:n.7049+32C>G
XM_011527563.1:c.6773+32C>G	XP_011525865.1:n.6773+32C>G
XM_011527561.2:c.6485+32C>G	XP_011525863.2:n.6485+32C>G
XM_011527562.2:c.7049+32C>G	XP_011525864.1:n.7049+32C>G
XM_017027544.1:c.6960-45C>G	XP_016883033.1:n.6960-45C>G
XM_017027545.1:c.6485+32C>G	XP_016883034.1:n.6485+32C>G
XM_017027546.1:c.4013+32C>G	XP_016883035.1:n.4013+32C>G
NM_014727.3:c.7049+32C>G MANE Select	NP_055542.1:n.7049+32C>G