Canonical Allele Identifier: CA405440077

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35738330G>A , CM000681.2:g.35738330G>A	GRCh38
NC_000019.9:g.36229231G>A , CM000681.1:g.36229231G>A	GRCh37
NC_000019.8:g.40921071G>A	NCBI36
NG_052906.1:g.25312G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7921G>A MANE Select	NP_055542.1:p.Ala2641Thr
ENST00000420124.4:c.7921G>A MANE Select	ENSP00000398837.2:p.Ala2641Thr
NM_014727.2:c.7921G>A	NP_055542.1:p.Ala2641Thr
ENST00000420124.2:c.7921G>A	ENSP00000398837.1:p.Ala2641Thr
ENST00000585476.5:n.2316G>A
ENST00000586308.1:n.539G>A
ENST00000592092.2:n.2391G>A
ENST00000673918.1:c.7855G>A	ENSP00000501283.1:p.Ala2619Thr
ENST00000673918.2:c.7855G>A	ENSP00000501283.1:p.Ala2619Thr
ENST00000674101.1:c.809G>A
ENST00000674114.1:c.5243G>A
ENST00000674114.2:c.5462G>A	ENSP00000501039.2:n.5462G>A
ENST00000686920.1:c.270G>A
ENST00000689544.1:n.3162G>A
ENST00000691855.1:c.7463G>A
ENST00000692961.1:c.*606G>A	ENSP00000509289.1:n.*606G>A
ENST00000693161.1:c.584G>A
ENST00000693175.1:c.970G>A
ENST00000693677.1:c.1666G>A	ENSP00000509779.1:p.Ala556Thr
XM_011527561.1:c.7855G>A	XP_011525863.1:p.Ala2619Thr
XM_011527561.2:c.7357G>A	XP_011525863.2:p.Ala2453Thr
XM_011527562.1:c.*81G>A	XP_011525864.1:n.*81G>A
XM_011527562.2:c.*81G>A	XP_011525864.1:n.*81G>A
XM_011527563.1:c.7645G>A	XP_011525865.1:p.Ala2549Thr
XM_017027544.1:c.7831G>A	XP_016883033.1:p.Ala2611Thr
XM_017027545.1:c.7357G>A	XP_016883034.1:p.Ala2453Thr
XM_017027546.1:c.4885G>A	XP_016883035.1:p.Ala1629Thr