Canonical Allele Identifier: CA405431518

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224672A>T (hg19) ; chr19:g.35733771A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733771A>T , CM000681.2:g.35733771A>T	GRCh38
NC_000019.9:g.36224672A>T , CM000681.1:g.36224672A>T	GRCh37
NC_000019.8:g.40916512A>T	NCBI36
NG_052906.1:g.20753A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1528A>T
ENST00000673918.2:c.6992A>T	ENSP00000501283.1:p.Gln2331Leu
ENST00000674114.2:c.4599A>T	ENSP00000501039.2:n.4599A>T
ENST00000684977.1:c.2253A>T	ENSP00000509384.1:n.2253A>T
ENST00000689544.1:n.2299A>T
ENST00000689929.1:c.9A>T
ENST00000691421.1:c.2189A>T	ENSP00000508674.1:p.Gln730Leu
ENST00000691855.1:c.6600A>T
ENST00000692961.1:c.6982A>T	ENSP00000509289.1:p.Arg2328Trp
ENST00000693175.1:c.9A>T
ENST00000693677.1:c.803A>T	ENSP00000509779.1:p.Gln268Leu
ENST00000420124.4:c.7058A>T MANE Select	ENSP00000398837.2:p.Gln2353Leu
ENST00000673918.1:c.6992A>T	ENSP00000501283.1:p.Gln2331Leu
ENST00000674114.1:c.4380A>T
ENST00000420124.2:c.7058A>T	ENSP00000398837.1:p.Gln2353Leu
ENST00000592092.1:n.438A>T
NM_014727.2:c.7058A>T	NP_055542.1:p.Gln2353Leu
XM_011527561.1:c.6992A>T	XP_011525863.1:p.Gln2331Leu
XM_011527562.1:c.7058A>T	XP_011525864.1:p.Gln2353Leu
XM_011527563.1:c.6782A>T	XP_011525865.1:p.Gln2261Leu
XM_011527561.2:c.6494A>T	XP_011525863.2:p.Gln2165Leu
XM_011527562.2:c.7058A>T	XP_011525864.1:p.Gln2353Leu
XM_017027544.1:c.6968A>T	XP_016883033.1:p.Gln2323Leu
XM_017027545.1:c.6494A>T	XP_016883034.1:p.Gln2165Leu
XM_017027546.1:c.4022A>T	XP_016883035.1:p.Gln1341Leu
NM_014727.3:c.7058A>T MANE Select	NP_055542.1:p.Gln2353Leu