Canonical Allele Identifier: CA405418908
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4912A>C ENSP00000501283.1:p.Ser1638Arg
ENST00000674114.2:c.2519A>C ENSP00000501039.2:n.2519A>C
ENST00000684977.1:c.196A>C ENSP00000509384.1:p.Ser66Arg
ENST00000685168.1:c.404A>C
ENST00000689544.1:n.131A>C
ENST00000691421.1:c.199A>C ENSP00000508674.1:p.Ser67Arg
ENST00000691855.1:c.4520A>C
ENST00000692961.1:c.4978A>C ENSP00000509289.1:p.Ser1660Arg
ENST00000420124.4:c.4978A>C MANE Select ENSP00000398837.2:p.Ser1660Arg
ENST00000673918.1:c.4912A>C ENSP00000501283.1:p.Ser1638Arg
ENST00000674114.1:c.2300A>C
ENST00000420124.2:c.4978A>C ENSP00000398837.1:p.Ser1660Arg
NM_014727.2:c.4978A>C NP_055542.1:p.Ser1660Arg
XM_011527561.1:c.4912A>C XP_011525863.1:p.Ser1638Arg
XM_011527562.1:c.4978A>C XP_011525864.1:p.Ser1660Arg
XM_011527563.1:c.4702A>C XP_011525865.1:p.Ser1568Arg
XM_011527561.2:c.4414A>C XP_011525863.2:p.Ser1472Arg
XM_011527562.2:c.4978A>C XP_011525864.1:p.Ser1660Arg
XM_017027544.1:c.4978A>C XP_016883033.1:p.Ser1660Arg
XM_017027545.1:c.4414A>C XP_016883034.1:p.Ser1472Arg
XM_017027546.1:c.1942A>C XP_016883035.1:p.Ser648Arg
NM_014727.3:c.4978A>C MANE Select NP_055542.1:p.Ser1660Arg