Canonical Allele Identifier: CA307787958

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35725605C>T , CM000681.2:g.35725605C>T	GRCh38
NC_000019.9:g.36216506C>T , CM000681.1:g.36216506C>T	GRCh37
NC_000019.8:g.40908346C>T	NCBI36
NG_052906.1:g.12587C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.3769C>T MANE Select	NP_055542.1:p.Arg1257Cys
ENST00000420124.4:c.3769C>T MANE Select	ENSP00000398837.2:p.Arg1257Cys
NM_014727.2:c.3769C>T	NP_055542.1:p.Arg1257Cys
ENST00000420124.2:c.3769C>T	ENSP00000398837.1:p.Arg1257Cys
ENST00000673918.1:c.3703C>T	ENSP00000501283.1:p.Arg1235Cys
ENST00000673918.2:c.3703C>T	ENSP00000501283.1:p.Arg1235Cys
ENST00000674114.1:c.1091C>T
ENST00000674114.2:c.1310C>T	ENSP00000501039.2:n.1310C>T
ENST00000685609.1:c.340C>T	ENSP00000509152.1:p.Arg114Cys
ENST00000691855.1:c.3311C>T
ENST00000691968.1:c.340C>T	ENSP00000508504.1:p.Arg114Cys
ENST00000692961.1:c.3769C>T	ENSP00000509289.1:p.Arg1257Cys
ENST00000693540.1:c.340C>T	ENSP00000509503.1:p.Arg114Cys
XM_011527561.1:c.3703C>T	XP_011525863.1:p.Arg1235Cys
XM_011527561.2:c.3205C>T	XP_011525863.2:p.Arg1069Cys
XM_011527562.1:c.3769C>T	XP_011525864.1:p.Arg1257Cys
XM_011527562.2:c.3769C>T	XP_011525864.1:p.Arg1257Cys
XM_011527563.1:c.3493C>T	XP_011525865.1:p.Arg1165Cys
XM_017027544.1:c.3769C>T	XP_016883033.1:p.Arg1257Cys
XM_017027545.1:c.3205C>T	XP_016883034.1:p.Arg1069Cys
XM_017027546.1:c.733C>T	XP_016883035.1:p.Arg245Cys
XR_935878.1:n.3793C>T
XR_935878.2:n.3970C>T