Canonical Allele Identifier: CA9384290

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35721107C>G , CM000681.2:g.35721107C>G	GRCh38
NC_000019.9:g.36212009C>G , CM000681.1:g.36212009C>G	GRCh37
NC_000019.8:g.40903849C>G	NCBI36
NG_052906.1:g.8089C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.1760C>G MANE Select	NP_055542.1:p.Pro587Arg
ENST00000420124.4:c.1760C>G MANE Select	ENSP00000398837.2:p.Pro587Arg
NM_014727.2:c.1760C>G	NP_055542.1:p.Pro587Arg
ENST00000420124.2:c.1760C>G	ENSP00000398837.1:p.Pro587Arg
ENST00000606995.2:n.39+167C>G
ENST00000673918.1:c.1694C>G	ENSP00000501283.1:p.Pro565Arg
ENST00000673918.2:c.1694C>G	ENSP00000501283.1:p.Pro565Arg
ENST00000687718.1:c.*1261C>G	ENSP00000510535.1:n.*1261C>G
ENST00000689139.1:c.1258C>G
ENST00000691855.1:c.1258C>G
ENST00000692961.1:c.1760C>G	ENSP00000509289.1:p.Pro587Arg
XM_011527561.1:c.1694C>G	XP_011525863.1:p.Pro565Arg
XM_011527561.2:c.1196C>G	XP_011525863.2:p.Pro399Arg
XM_011527562.1:c.1760C>G	XP_011525864.1:p.Pro587Arg
XM_011527562.2:c.1760C>G	XP_011525864.1:p.Pro587Arg
XM_011527563.1:c.1760C>G	XP_011525865.1:p.Pro587Arg
XM_017027544.1:c.1760C>G	XP_016883033.1:p.Pro587Arg
XM_017027545.1:c.1196C>G	XP_016883034.1:p.Pro399Arg
XR_935878.1:n.1784C>G
XR_935878.2:n.1961C>G