Canonical Allele Identifier: CA405428193
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732937G>A , CM000681.2:g.35732937G>A GRCh38
NC_000019.9:g.36223838G>A , CM000681.1:g.36223838G>A GRCh37
NC_000019.8:g.40915678G>A NCBI36
NG_052906.1:g.19919G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.694G>A
ENST00000673918.2:c.6322G>A ENSP00000501283.1:p.Gly2108Ser
ENST00000674114.2:c.3929G>A ENSP00000501039.2:n.3929G>A
ENST00000684977.1:c.1606G>A ENSP00000509384.1:p.Gly536Ser
ENST00000689544.1:n.1541G>A
ENST00000691421.1:c.1609G>A ENSP00000508674.1:p.Gly537Ser
ENST00000691855.1:c.5930G>A
ENST00000692961.1:c.6388G>A ENSP00000509289.1:p.Gly2130Ser
ENST00000693677.1:c.704+608G>A ENSP00000509779.1:n.704+608G>A
ENST00000420124.4:c.6388G>A MANE Select ENSP00000398837.2:p.Gly2130Ser
ENST00000673918.1:c.6322G>A ENSP00000501283.1:p.Gly2108Ser
ENST00000674114.1:c.3710G>A
ENST00000420124.2:c.6388G>A ENSP00000398837.1:p.Gly2130Ser
NM_014727.2:c.6388G>A NP_055542.1:p.Gly2130Ser
XM_011527561.1:c.6322G>A XP_011525863.1:p.Gly2108Ser
XM_011527562.1:c.6388G>A XP_011525864.1:p.Gly2130Ser
XM_011527563.1:c.6112G>A XP_011525865.1:p.Gly2038Ser
XM_011527561.2:c.5824G>A XP_011525863.2:p.Gly1942Ser
XM_011527562.2:c.6388G>A XP_011525864.1:p.Gly2130Ser
XM_017027544.1:c.6388G>A XP_016883033.1:p.Gly2130Ser
XM_017027545.1:c.5824G>A XP_016883034.1:p.Gly1942Ser
XM_017027546.1:c.3352G>A XP_016883035.1:p.Gly1118Ser
NM_014727.3:c.6388G>A MANE Select NP_055542.1:p.Gly2130Ser