Canonical Allele Identifier: CA405428546
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732994T>G , CM000681.2:g.35732994T>G GRCh38
NC_000019.9:g.36223895T>G , CM000681.1:g.36223895T>G GRCh37
NC_000019.8:g.40915735T>G NCBI36
NG_052906.1:g.19976T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.751T>G
ENST00000673918.2:c.6379T>G ENSP00000501283.1:p.Ser2127Ala
ENST00000674114.2:c.3986T>G ENSP00000501039.2:n.3986T>G
ENST00000684977.1:c.1663T>G ENSP00000509384.1:p.Ser555Ala
ENST00000689544.1:n.1598T>G
ENST00000691421.1:c.1666T>G ENSP00000508674.1:p.Ser556Ala
ENST00000691855.1:c.5987T>G
ENST00000692961.1:c.6445T>G ENSP00000509289.1:p.Ser2149Ala
ENST00000693677.1:c.705-603T>G ENSP00000509779.1:n.705-603T>G
ENST00000420124.4:c.6445T>G MANE Select ENSP00000398837.2:p.Ser2149Ala
ENST00000673918.1:c.6379T>G ENSP00000501283.1:p.Ser2127Ala
ENST00000674114.1:c.3767T>G
ENST00000420124.2:c.6445T>G ENSP00000398837.1:p.Ser2149Ala
NM_014727.2:c.6445T>G NP_055542.1:p.Ser2149Ala
XM_011527561.1:c.6379T>G XP_011525863.1:p.Ser2127Ala
XM_011527562.1:c.6445T>G XP_011525864.1:p.Ser2149Ala
XM_011527563.1:c.6169T>G XP_011525865.1:p.Ser2057Ala
XM_011527561.2:c.5881T>G XP_011525863.2:p.Ser1961Ala
XM_011527562.2:c.6445T>G XP_011525864.1:p.Ser2149Ala
XM_017027544.1:c.6445T>G XP_016883033.1:p.Ser2149Ala
XM_017027545.1:c.5881T>G XP_016883034.1:p.Ser1961Ala
XM_017027546.1:c.3409T>G XP_016883035.1:p.Ser1137Ala
NM_014727.3:c.6445T>G MANE Select NP_055542.1:p.Ser2149Ala