Canonical Allele Identifier: CA405411525

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35726267G>T , CM000681.2:g.35726267G>T	GRCh38
NC_000019.9:g.36217168G>T , CM000681.1:g.36217168G>T	GRCh37
NC_000019.8:g.40909008G>T	NCBI36
NG_052906.1:g.13249G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.3917G>T MANE Select	NP_055542.1:p.Cys1306Phe
ENST00000420124.4:c.3917G>T MANE Select	ENSP00000398837.2:p.Cys1306Phe
NM_014727.2:c.3917G>T	NP_055542.1:p.Cys1306Phe
ENST00000420124.2:c.3917G>T	ENSP00000398837.1:p.Cys1306Phe
ENST00000673918.1:c.3851G>T	ENSP00000501283.1:p.Cys1284Phe
ENST00000673918.2:c.3851G>T	ENSP00000501283.1:p.Cys1284Phe
ENST00000674114.1:c.1239G>T
ENST00000674114.2:c.1458G>T	ENSP00000501039.2:n.1458G>T
ENST00000685609.1:c.456+449G>T	ENSP00000509152.1:n.456+449G>T
ENST00000691855.1:c.3459G>T
ENST00000691968.1:c.488G>T	ENSP00000508504.1:p.Cys163Phe
ENST00000692961.1:c.3917G>T	ENSP00000509289.1:p.Cys1306Phe
ENST00000693540.1:c.500G>T	ENSP00000509503.1:p.Cys167Phe
XM_011527561.1:c.3851G>T	XP_011525863.1:p.Cys1284Phe
XM_011527561.2:c.3353G>T	XP_011525863.2:p.Cys1118Phe
XM_011527562.1:c.3917G>T	XP_011525864.1:p.Cys1306Phe
XM_011527562.2:c.3917G>T	XP_011525864.1:p.Cys1306Phe
XM_011527563.1:c.3641G>T	XP_011525865.1:p.Cys1214Phe
XM_017027544.1:c.3917G>T	XP_016883033.1:p.Cys1306Phe
XM_017027545.1:c.3353G>T	XP_016883034.1:p.Cys1118Phe
XM_017027546.1:c.881G>T	XP_016883035.1:p.Cys294Phe
XR_935878.1:n.3941G>T
XR_935878.2:n.4118G>T