Canonical Allele Identifier: CA405418909
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730027A>T , CM000681.2:g.35730027A>T GRCh38
NC_000019.9:g.36220928A>T , CM000681.1:g.36220928A>T GRCh37
NC_000019.8:g.40912768A>T NCBI36
NG_052906.1:g.17009A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4912A>T ENSP00000501283.1:p.Ser1638Cys
ENST00000674114.2:c.2519A>T ENSP00000501039.2:n.2519A>T
ENST00000684977.1:c.196A>T ENSP00000509384.1:p.Ser66Cys
ENST00000685168.1:c.404A>T
ENST00000689544.1:n.131A>T
ENST00000691421.1:c.199A>T ENSP00000508674.1:p.Ser67Cys
ENST00000691855.1:c.4520A>T
ENST00000692961.1:c.4978A>T ENSP00000509289.1:p.Ser1660Cys
ENST00000420124.4:c.4978A>T MANE Select ENSP00000398837.2:p.Ser1660Cys
ENST00000673918.1:c.4912A>T ENSP00000501283.1:p.Ser1638Cys
ENST00000674114.1:c.2300A>T
ENST00000420124.2:c.4978A>T ENSP00000398837.1:p.Ser1660Cys
NM_014727.2:c.4978A>T NP_055542.1:p.Ser1660Cys
XM_011527561.1:c.4912A>T XP_011525863.1:p.Ser1638Cys
XM_011527562.1:c.4978A>T XP_011525864.1:p.Ser1660Cys
XM_011527563.1:c.4702A>T XP_011525865.1:p.Ser1568Cys
XM_011527561.2:c.4414A>T XP_011525863.2:p.Ser1472Cys
XM_011527562.2:c.4978A>T XP_011525864.1:p.Ser1660Cys
XM_017027544.1:c.4978A>T XP_016883033.1:p.Ser1660Cys
XM_017027545.1:c.4414A>T XP_016883034.1:p.Ser1472Cys
XM_017027546.1:c.1942A>T XP_016883035.1:p.Ser648Cys
NM_014727.3:c.4978A>T MANE Select NP_055542.1:p.Ser1660Cys