Canonical Allele Identifier: CA405431499

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224669T>G (hg19) ; chr19:g.35733768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733768T>G , CM000681.2:g.35733768T>G	GRCh38
NC_000019.9:g.36224669T>G , CM000681.1:g.36224669T>G	GRCh37
NC_000019.8:g.40916509T>G	NCBI36
NG_052906.1:g.20750T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1525T>G
ENST00000673918.2:c.6989T>G	ENSP00000501283.1:p.Leu2330Arg
ENST00000674114.2:c.4596T>G	ENSP00000501039.2:n.4596T>G
ENST00000684977.1:c.2250T>G	ENSP00000509384.1:n.2250T>G
ENST00000689544.1:n.2296T>G
ENST00000689929.1:c.6T>G
ENST00000691421.1:c.2186T>G	ENSP00000508674.1:p.Leu729Arg
ENST00000691855.1:c.6597T>G
ENST00000692961.1:c.6979T>G	ENSP00000509289.1:p.Ser2327Ala
ENST00000693175.1:c.6T>G
ENST00000693677.1:c.800T>G	ENSP00000509779.1:p.Leu267Arg
ENST00000420124.4:c.7055T>G MANE Select	ENSP00000398837.2:p.Leu2352Arg
ENST00000673918.1:c.6989T>G	ENSP00000501283.1:p.Leu2330Arg
ENST00000674114.1:c.4377T>G
ENST00000420124.2:c.7055T>G	ENSP00000398837.1:p.Leu2352Arg
ENST00000592092.1:n.435T>G
NM_014727.2:c.7055T>G	NP_055542.1:p.Leu2352Arg
XM_011527561.1:c.6989T>G	XP_011525863.1:p.Leu2330Arg
XM_011527562.1:c.7055T>G	XP_011525864.1:p.Leu2352Arg
XM_011527563.1:c.6779T>G	XP_011525865.1:p.Leu2260Arg
XM_011527561.2:c.6491T>G	XP_011525863.2:p.Leu2164Arg
XM_011527562.2:c.7055T>G	XP_011525864.1:p.Leu2352Arg
XM_017027544.1:c.6965T>G	XP_016883033.1:p.Leu2322Arg
XM_017027545.1:c.6491T>G	XP_016883034.1:p.Leu2164Arg
XM_017027546.1:c.4019T>G	XP_016883035.1:p.Leu1340Arg
NM_014727.3:c.7055T>G MANE Select	NP_055542.1:p.Leu2352Arg