Canonical Allele Identifier: CA405419187
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730075G>C , CM000681.2:g.35730075G>C GRCh38
NC_000019.9:g.36220976G>C , CM000681.1:g.36220976G>C GRCh37
NC_000019.8:g.40912816G>C NCBI36
NG_052906.1:g.17057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4960G>C ENSP00000501283.1:p.Asp1654His
ENST00000674114.2:c.2567G>C ENSP00000501039.2:n.2567G>C
ENST00000684977.1:c.244G>C ENSP00000509384.1:p.Asp82His
ENST00000685168.1:c.452G>C
ENST00000689544.1:n.179G>C
ENST00000691421.1:c.247G>C ENSP00000508674.1:p.Asp83His
ENST00000691855.1:c.4568G>C
ENST00000692961.1:c.5026G>C ENSP00000509289.1:p.Asp1676His
ENST00000420124.4:c.5026G>C MANE Select ENSP00000398837.2:p.Asp1676His
ENST00000673918.1:c.4960G>C ENSP00000501283.1:p.Asp1654His
ENST00000674114.1:c.2348G>C
ENST00000420124.2:c.5026G>C ENSP00000398837.1:p.Asp1676His
NM_014727.2:c.5026G>C NP_055542.1:p.Asp1676His
XM_011527561.1:c.4960G>C XP_011525863.1:p.Asp1654His
XM_011527562.1:c.5026G>C XP_011525864.1:p.Asp1676His
XM_011527563.1:c.4750G>C XP_011525865.1:p.Asp1584His
XM_011527561.2:c.4462G>C XP_011525863.2:p.Asp1488His
XM_011527562.2:c.5026G>C XP_011525864.1:p.Asp1676His
XM_017027544.1:c.5026G>C XP_016883033.1:p.Asp1676His
XM_017027545.1:c.4462G>C XP_016883034.1:p.Asp1488His
XM_017027546.1:c.1990G>C XP_016883035.1:p.Asp664His
NM_014727.3:c.5026G>C MANE Select NP_055542.1:p.Asp1676His