Canonical Allele Identifier: CA9385680
Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2980029
ClinVar RCV Id: RCV003837203
dbSNP Id: rs778657853

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732958C>T , CM000681.2:g.35732958C>T GRCh38
NC_000019.9:g.36223859C>T , CM000681.1:g.36223859C>T GRCh37
NC_000019.8:g.40915699C>T NCBI36
NG_052906.1:g.19940C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.715C>T
ENST00000673918.2:c.6343C>T ENSP00000501283.1:p.Pro2115Ser
ENST00000674114.2:c.3950C>T ENSP00000501039.2:n.3950C>T
ENST00000684977.1:c.1627C>T ENSP00000509384.1:p.Pro543Ser
ENST00000689544.1:n.1562C>T
ENST00000691421.1:c.1630C>T ENSP00000508674.1:p.Pro544Ser
ENST00000691855.1:c.5951C>T
ENST00000692961.1:c.6409C>T ENSP00000509289.1:p.Pro2137Ser
ENST00000693677.1:c.704+629C>T ENSP00000509779.1:n.704+629C>T
ENST00000420124.4:c.6409C>T MANE Select ENSP00000398837.2:p.Pro2137Ser
ENST00000673918.1:c.6343C>T ENSP00000501283.1:p.Pro2115Ser
ENST00000674114.1:c.3731C>T
ENST00000420124.2:c.6409C>T ENSP00000398837.1:p.Pro2137Ser
NM_014727.2:c.6409C>T NP_055542.1:p.Pro2137Ser
XM_011527561.1:c.6343C>T XP_011525863.1:p.Pro2115Ser
XM_011527562.1:c.6409C>T XP_011525864.1:p.Pro2137Ser
XM_011527563.1:c.6133C>T XP_011525865.1:p.Pro2045Ser
XM_011527561.2:c.5845C>T XP_011525863.2:p.Pro1949Ser
XM_011527562.2:c.6409C>T XP_011525864.1:p.Pro2137Ser
XM_017027544.1:c.6409C>T XP_016883033.1:p.Pro2137Ser
XM_017027545.1:c.5845C>T XP_016883034.1:p.Pro1949Ser
XM_017027546.1:c.3373C>T XP_016883035.1:p.Pro1125Ser
NM_014727.3:c.6409C>T MANE Select NP_055542.1:p.Pro2137Ser