Canonical Allele Identifier: CA405413017

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35727195A>G , CM000681.2:g.35727195A>G	GRCh38
NC_000019.9:g.36218096A>G , CM000681.1:g.36218096A>G	GRCh37
NC_000019.8:g.40909936A>G	NCBI36
NG_052906.1:g.14177A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.4043A>G MANE Select	NP_055542.1:p.Asn1348Ser
ENST00000420124.4:c.4043A>G MANE Select	ENSP00000398837.2:p.Asn1348Ser
NM_014727.2:c.4043A>G	NP_055542.1:p.Asn1348Ser
ENST00000420124.2:c.4043A>G	ENSP00000398837.1:p.Asn1348Ser
ENST00000673918.1:c.3977A>G	ENSP00000501283.1:p.Asn1326Ser
ENST00000673918.2:c.3977A>G	ENSP00000501283.1:p.Asn1326Ser
ENST00000674114.1:c.1365A>G
ENST00000674114.2:c.1584A>G	ENSP00000501039.2:n.1584A>G
ENST00000685609.1:c.496A>G	ENSP00000509152.1:p.Thr166Ala
ENST00000690290.1:c.40A>G
ENST00000691855.1:c.3585A>G
ENST00000691968.1:c.591A>G	ENSP00000508504.1:n.591A>G
ENST00000692961.1:c.4043A>G	ENSP00000509289.1:p.Asn1348Ser
XM_011527561.1:c.3977A>G	XP_011525863.1:p.Asn1326Ser
XM_011527561.2:c.3479A>G	XP_011525863.2:p.Asn1160Ser
XM_011527562.1:c.4043A>G	XP_011525864.1:p.Asn1348Ser
XM_011527562.2:c.4043A>G	XP_011525864.1:p.Asn1348Ser
XM_011527563.1:c.3767A>G	XP_011525865.1:p.Asn1256Ser
XM_017027544.1:c.4043A>G	XP_016883033.1:p.Asn1348Ser
XM_017027545.1:c.3479A>G	XP_016883034.1:p.Asn1160Ser
XM_017027546.1:c.1007A>G	XP_016883035.1:p.Asn336Ser
XR_935878.1:n.4067A>G
XR_935878.2:n.4244A>G