Canonical Allele Identifier: CA405404488

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35723863C>A , CM000681.2:g.35723863C>A	GRCh38
NC_000019.9:g.36214764C>A , CM000681.1:g.36214764C>A	GRCh37
NC_000019.8:g.40906604C>A	NCBI36
NG_052906.1:g.10845C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.3190C>A MANE Select	NP_055542.1:p.Pro1064Thr
ENST00000420124.4:c.3190C>A MANE Select	ENSP00000398837.2:p.Pro1064Thr
NM_014727.2:c.3190C>A	NP_055542.1:p.Pro1064Thr
ENST00000420124.2:c.3190C>A	ENSP00000398837.1:p.Pro1064Thr
ENST00000673918.1:c.3124C>A	ENSP00000501283.1:p.Pro1042Thr
ENST00000673918.2:c.3124C>A	ENSP00000501283.1:p.Pro1042Thr
ENST00000674114.1:c.512C>A
ENST00000674114.2:c.731C>A	ENSP00000501039.2:n.731C>A
ENST00000685062.1:n.448C>A
ENST00000689864.1:c.57-81C>A
ENST00000690487.1:c.132C>A
ENST00000691855.1:c.2732C>A
ENST00000692961.1:c.3190C>A	ENSP00000509289.1:p.Pro1064Thr
XM_011527561.1:c.3124C>A	XP_011525863.1:p.Pro1042Thr
XM_011527561.2:c.2626C>A	XP_011525863.2:p.Pro876Thr
XM_011527562.1:c.3190C>A	XP_011525864.1:p.Pro1064Thr
XM_011527562.2:c.3190C>A	XP_011525864.1:p.Pro1064Thr
XM_011527563.1:c.3058+361C>A	XP_011525865.1:n.3058+361C>A
XM_017027544.1:c.3190C>A	XP_016883033.1:p.Pro1064Thr
XM_017027545.1:c.2626C>A	XP_016883034.1:p.Pro876Thr
XM_017027546.1:c.154C>A	XP_016883035.1:p.Pro52Thr
XR_935878.1:n.3214C>A
XR_935878.2:n.3391C>A