Canonical Allele Identifier: CA9384680

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35723879C>G , CM000681.2:g.35723879C>G	GRCh38
NC_000019.9:g.36214780C>G , CM000681.1:g.36214780C>G	GRCh37
NC_000019.8:g.40906620C>G	NCBI36
NG_052906.1:g.10861C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.3206C>G MANE Select	NP_055542.1:p.Ser1069Cys
ENST00000420124.4:c.3206C>G MANE Select	ENSP00000398837.2:p.Ser1069Cys
NM_014727.2:c.3206C>G	NP_055542.1:p.Ser1069Cys
ENST00000420124.2:c.3206C>G	ENSP00000398837.1:p.Ser1069Cys
ENST00000673918.1:c.3140C>G	ENSP00000501283.1:p.Ser1047Cys
ENST00000673918.2:c.3140C>G	ENSP00000501283.1:p.Ser1047Cys
ENST00000674114.1:c.528C>G
ENST00000674114.2:c.747C>G	ENSP00000501039.2:n.747C>G
ENST00000685062.1:n.464C>G
ENST00000689864.1:c.57-65C>G
ENST00000690487.1:c.148C>G
ENST00000691855.1:c.2748C>G
ENST00000692961.1:c.3206C>G	ENSP00000509289.1:p.Ser1069Cys
XM_011527561.1:c.3140C>G	XP_011525863.1:p.Ser1047Cys
XM_011527561.2:c.2642C>G	XP_011525863.2:p.Ser881Cys
XM_011527562.1:c.3206C>G	XP_011525864.1:p.Ser1069Cys
XM_011527562.2:c.3206C>G	XP_011525864.1:p.Ser1069Cys
XM_011527563.1:c.3058+377C>G	XP_011525865.1:n.3058+377C>G
XM_017027544.1:c.3206C>G	XP_016883033.1:p.Ser1069Cys
XM_017027545.1:c.2642C>G	XP_016883034.1:p.Ser881Cys
XM_017027546.1:c.170C>G	XP_016883035.1:p.Ser57Cys
XR_935878.1:n.3230C>G
XR_935878.2:n.3407C>G