Canonical Allele Identifier: CA405437135

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35737181T>C , CM000681.2:g.35737181T>C	GRCh38
NC_000019.9:g.36228082T>C , CM000681.1:g.36228082T>C	GRCh37
NC_000019.8:g.40919922T>C	NCBI36
NG_052906.1:g.24163T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7468T>C MANE Select	NP_055542.1:p.Phe2490Leu
ENST00000420124.4:c.7468T>C MANE Select	ENSP00000398837.2:p.Phe2490Leu
NM_014727.2:c.7468T>C	NP_055542.1:p.Phe2490Leu
ENST00000420124.2:c.7468T>C	ENSP00000398837.1:p.Phe2490Leu
ENST00000585476.5:n.1863T>C
ENST00000592092.2:n.1938T>C
ENST00000673918.1:c.7402T>C	ENSP00000501283.1:p.Phe2468Leu
ENST00000673918.2:c.7402T>C	ENSP00000501283.1:p.Phe2468Leu
ENST00000674101.1:c.309T>C
ENST00000674114.1:c.4790T>C
ENST00000674114.2:c.5009T>C	ENSP00000501039.2:n.5009T>C
ENST00000689544.1:n.2709T>C
ENST00000689929.1:c.380T>C
ENST00000691855.1:c.7010T>C
ENST00000692961.1:c.*153T>C	ENSP00000509289.1:n.*153T>C
ENST00000693161.1:c.213+195T>C
ENST00000693175.1:c.517T>C
ENST00000693677.1:c.1213T>C	ENSP00000509779.1:p.Phe405Leu
XM_011527561.1:c.7402T>C	XP_011525863.1:p.Phe2468Leu
XM_011527561.2:c.6904T>C	XP_011525863.2:p.Phe2302Leu
XM_011527562.1:c.7468T>C	XP_011525864.1:p.Phe2490Leu
XM_011527562.2:c.7468T>C	XP_011525864.1:p.Phe2490Leu
XM_011527563.1:c.7192T>C	XP_011525865.1:p.Phe2398Leu
XM_017027544.1:c.7378T>C	XP_016883033.1:p.Phe2460Leu
XM_017027545.1:c.6904T>C	XP_016883034.1:p.Phe2302Leu
XM_017027546.1:c.4432T>C	XP_016883035.1:p.Phe1478Leu