Canonical Allele Identifier: CA405418839
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730010G>C , CM000681.2:g.35730010G>C GRCh38
NC_000019.9:g.36220911G>C , CM000681.1:g.36220911G>C GRCh37
NC_000019.8:g.40912751G>C NCBI36
NG_052906.1:g.16992G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4895G>C ENSP00000501283.1:p.Cys1632Ser
ENST00000674114.2:c.2502G>C ENSP00000501039.2:n.2502G>C
ENST00000684977.1:c.179G>C ENSP00000509384.1:p.Cys60Ser
ENST00000685168.1:c.387G>C
ENST00000689544.1:n.114G>C
ENST00000691421.1:c.182G>C ENSP00000508674.1:p.Cys61Ser
ENST00000691855.1:c.4503G>C
ENST00000692961.1:c.4961G>C ENSP00000509289.1:p.Cys1654Ser
ENST00000420124.4:c.4961G>C MANE Select ENSP00000398837.2:p.Cys1654Ser
ENST00000673918.1:c.4895G>C ENSP00000501283.1:p.Cys1632Ser
ENST00000674114.1:c.2283G>C
ENST00000420124.2:c.4961G>C ENSP00000398837.1:p.Cys1654Ser
NM_014727.2:c.4961G>C NP_055542.1:p.Cys1654Ser
XM_011527561.1:c.4895G>C XP_011525863.1:p.Cys1632Ser
XM_011527562.1:c.4961G>C XP_011525864.1:p.Cys1654Ser
XM_011527563.1:c.4685G>C XP_011525865.1:p.Cys1562Ser
XM_011527561.2:c.4397G>C XP_011525863.2:p.Cys1466Ser
XM_011527562.2:c.4961G>C XP_011525864.1:p.Cys1654Ser
XM_017027544.1:c.4961G>C XP_016883033.1:p.Cys1654Ser
XM_017027545.1:c.4397G>C XP_016883034.1:p.Cys1466Ser
XM_017027546.1:c.1925G>C XP_016883035.1:p.Cys642Ser
NM_014727.3:c.4961G>C MANE Select NP_055542.1:p.Cys1654Ser