Canonical Allele Identifier: CA405437149

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35737183C>A , CM000681.2:g.35737183C>A	GRCh38
NC_000019.9:g.36228084C>A , CM000681.1:g.36228084C>A	GRCh37
NC_000019.8:g.40919924C>A	NCBI36
NG_052906.1:g.24165C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7470C>A MANE Select	NP_055542.1:p.Phe2490Leu
ENST00000420124.4:c.7470C>A MANE Select	ENSP00000398837.2:p.Phe2490Leu
NM_014727.2:c.7470C>A	NP_055542.1:p.Phe2490Leu
ENST00000420124.2:c.7470C>A	ENSP00000398837.1:p.Phe2490Leu
ENST00000585476.5:n.1865C>A
ENST00000592092.2:n.1940C>A
ENST00000673918.1:c.7404C>A	ENSP00000501283.1:p.Phe2468Leu
ENST00000673918.2:c.7404C>A	ENSP00000501283.1:p.Phe2468Leu
ENST00000674101.1:c.311C>A
ENST00000674114.1:c.4792C>A
ENST00000674114.2:c.5011C>A	ENSP00000501039.2:n.5011C>A
ENST00000689544.1:n.2711C>A
ENST00000689929.1:c.382C>A
ENST00000691855.1:c.7012C>A
ENST00000692961.1:c.*155C>A	ENSP00000509289.1:n.*155C>A
ENST00000693161.1:c.213+197C>A
ENST00000693175.1:c.519C>A
ENST00000693677.1:c.1215C>A	ENSP00000509779.1:p.Phe405Leu
XM_011527561.1:c.7404C>A	XP_011525863.1:p.Phe2468Leu
XM_011527561.2:c.6906C>A	XP_011525863.2:p.Phe2302Leu
XM_011527562.1:c.7470C>A	XP_011525864.1:p.Phe2490Leu
XM_011527562.2:c.7470C>A	XP_011525864.1:p.Phe2490Leu
XM_011527563.1:c.7194C>A	XP_011525865.1:p.Phe2398Leu
XM_017027544.1:c.7380C>A	XP_016883033.1:p.Phe2460Leu
XM_017027545.1:c.6906C>A	XP_016883034.1:p.Phe2302Leu
XM_017027546.1:c.4434C>A	XP_016883035.1:p.Phe1478Leu