Canonical Allele Identifier: CA405418744
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729991G>C , CM000681.2:g.35729991G>C GRCh38
NC_000019.9:g.36220892G>C , CM000681.1:g.36220892G>C GRCh37
NC_000019.8:g.40912732G>C NCBI36
NG_052906.1:g.16973G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4876G>C ENSP00000501283.1:p.Gly1626Arg
ENST00000674114.2:c.2483G>C ENSP00000501039.2:n.2483G>C
ENST00000684977.1:c.160G>C ENSP00000509384.1:p.Gly54Arg
ENST00000685168.1:c.368G>C
ENST00000689544.1:n.95G>C
ENST00000691421.1:c.163G>C ENSP00000508674.1:p.Gly55Arg
ENST00000691855.1:c.4484G>C
ENST00000692961.1:c.4942G>C ENSP00000509289.1:p.Gly1648Arg
ENST00000420124.4:c.4942G>C MANE Select ENSP00000398837.2:p.Gly1648Arg
ENST00000673918.1:c.4876G>C ENSP00000501283.1:p.Gly1626Arg
ENST00000674114.1:c.2264G>C
ENST00000420124.2:c.4942G>C ENSP00000398837.1:p.Gly1648Arg
NM_014727.2:c.4942G>C NP_055542.1:p.Gly1648Arg
XM_011527561.1:c.4876G>C XP_011525863.1:p.Gly1626Arg
XM_011527562.1:c.4942G>C XP_011525864.1:p.Gly1648Arg
XM_011527563.1:c.4666G>C XP_011525865.1:p.Gly1556Arg
XM_011527561.2:c.4378G>C XP_011525863.2:p.Gly1460Arg
XM_011527562.2:c.4942G>C XP_011525864.1:p.Gly1648Arg
XM_017027544.1:c.4942G>C XP_016883033.1:p.Gly1648Arg
XM_017027545.1:c.4378G>C XP_016883034.1:p.Gly1460Arg
XM_017027546.1:c.1906G>C XP_016883035.1:p.Gly636Arg
NM_014727.3:c.4942G>C MANE Select NP_055542.1:p.Gly1648Arg