Canonical Allele Identifier: CA405418914
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730029C>G , CM000681.2:g.35730029C>G GRCh38
NC_000019.9:g.36220930C>G , CM000681.1:g.36220930C>G GRCh37
NC_000019.8:g.40912770C>G NCBI36
NG_052906.1:g.17011C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4914C>G ENSP00000501283.1:p.Ser1638Arg
ENST00000674114.2:c.2521C>G ENSP00000501039.2:n.2521C>G
ENST00000684977.1:c.198C>G ENSP00000509384.1:p.Ser66Arg
ENST00000685168.1:c.406C>G
ENST00000689544.1:n.133C>G
ENST00000691421.1:c.201C>G ENSP00000508674.1:p.Ser67Arg
ENST00000691855.1:c.4522C>G
ENST00000692961.1:c.4980C>G ENSP00000509289.1:p.Ser1660Arg
ENST00000420124.4:c.4980C>G MANE Select ENSP00000398837.2:p.Ser1660Arg
ENST00000673918.1:c.4914C>G ENSP00000501283.1:p.Ser1638Arg
ENST00000674114.1:c.2302C>G
ENST00000420124.2:c.4980C>G ENSP00000398837.1:p.Ser1660Arg
NM_014727.2:c.4980C>G NP_055542.1:p.Ser1660Arg
XM_011527561.1:c.4914C>G XP_011525863.1:p.Ser1638Arg
XM_011527562.1:c.4980C>G XP_011525864.1:p.Ser1660Arg
XM_011527563.1:c.4704C>G XP_011525865.1:p.Ser1568Arg
XM_011527561.2:c.4416C>G XP_011525863.2:p.Ser1472Arg
XM_011527562.2:c.4980C>G XP_011525864.1:p.Ser1660Arg
XM_017027544.1:c.4980C>G XP_016883033.1:p.Ser1660Arg
XM_017027545.1:c.4416C>G XP_016883034.1:p.Ser1472Arg
XM_017027546.1:c.1944C>G XP_016883035.1:p.Ser648Arg
NM_014727.3:c.4980C>G MANE Select NP_055542.1:p.Ser1660Arg