Canonical Allele Identifier: CA405418898
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730022G>C , CM000681.2:g.35730022G>C GRCh38
NC_000019.9:g.36220923G>C , CM000681.1:g.36220923G>C GRCh37
NC_000019.8:g.40912763G>C NCBI36
NG_052906.1:g.17004G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4907G>C ENSP00000501283.1:p.Cys1636Ser
ENST00000674114.2:c.2514G>C ENSP00000501039.2:n.2514G>C
ENST00000684977.1:c.191G>C ENSP00000509384.1:p.Cys64Ser
ENST00000685168.1:c.399G>C
ENST00000689544.1:n.126G>C
ENST00000691421.1:c.194G>C ENSP00000508674.1:p.Cys65Ser
ENST00000691855.1:c.4515G>C
ENST00000692961.1:c.4973G>C ENSP00000509289.1:p.Cys1658Ser
ENST00000420124.4:c.4973G>C MANE Select ENSP00000398837.2:p.Cys1658Ser
ENST00000673918.1:c.4907G>C ENSP00000501283.1:p.Cys1636Ser
ENST00000674114.1:c.2295G>C
ENST00000420124.2:c.4973G>C ENSP00000398837.1:p.Cys1658Ser
NM_014727.2:c.4973G>C NP_055542.1:p.Cys1658Ser
XM_011527561.1:c.4907G>C XP_011525863.1:p.Cys1636Ser
XM_011527562.1:c.4973G>C XP_011525864.1:p.Cys1658Ser
XM_011527563.1:c.4697G>C XP_011525865.1:p.Cys1566Ser
XM_011527561.2:c.4409G>C XP_011525863.2:p.Cys1470Ser
XM_011527562.2:c.4973G>C XP_011525864.1:p.Cys1658Ser
XM_017027544.1:c.4973G>C XP_016883033.1:p.Cys1658Ser
XM_017027545.1:c.4409G>C XP_016883034.1:p.Cys1470Ser
XM_017027546.1:c.1937G>C XP_016883035.1:p.Cys646Ser
NM_014727.3:c.4973G>C MANE Select NP_055542.1:p.Cys1658Ser