Canonical Allele Identifier: CA405424452

Gene: KMT2B

Linked Data

• COSMIC: COSM5855515
• MyVariant Identifiers: chr19:g.36223350C>G (hg19) ; chr19:g.35732449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732449C>G , CM000681.2:g.35732449C>G	GRCh38
NC_000019.9:g.36223350C>G , CM000681.1:g.36223350C>G	GRCh37
NC_000019.8:g.40915190C>G	NCBI36
NG_052906.1:g.19431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.206C>G
ENST00000673918.2:c.5834C>G	ENSP00000501283.1:p.Pro1945Arg
ENST00000674114.2:c.3441C>G	ENSP00000501039.2:n.3441C>G
ENST00000684977.1:c.1118C>G	ENSP00000509384.1:p.Pro373Arg
ENST00000689544.1:n.1053C>G
ENST00000691421.1:c.1121C>G	ENSP00000508674.1:p.Pro374Arg
ENST00000691855.1:c.5442C>G
ENST00000692961.1:c.5900C>G	ENSP00000509289.1:p.Pro1967Arg
ENST00000693677.1:c.704+120C>G	ENSP00000509779.1:n.704+120C>G
ENST00000420124.4:c.5900C>G MANE Select	ENSP00000398837.2:p.Pro1967Arg
ENST00000673918.1:c.5834C>G	ENSP00000501283.1:p.Pro1945Arg
ENST00000674114.1:c.3222C>G
ENST00000420124.2:c.5900C>G	ENSP00000398837.1:p.Pro1967Arg
NM_014727.2:c.5900C>G	NP_055542.1:p.Pro1967Arg
XM_011527561.1:c.5834C>G	XP_011525863.1:p.Pro1945Arg
XM_011527562.1:c.5900C>G	XP_011525864.1:p.Pro1967Arg
XM_011527563.1:c.5624C>G	XP_011525865.1:p.Pro1875Arg
XM_011527561.2:c.5336C>G	XP_011525863.2:p.Pro1779Arg
XM_011527562.2:c.5900C>G	XP_011525864.1:p.Pro1967Arg
XM_017027544.1:c.5900C>G	XP_016883033.1:p.Pro1967Arg
XM_017027545.1:c.5336C>G	XP_016883034.1:p.Pro1779Arg
XM_017027546.1:c.2864C>G	XP_016883035.1:p.Pro955Arg
NM_014727.3:c.5900C>G MANE Select	NP_055542.1:p.Pro1967Arg