Canonical Allele Identifier: CA405429527
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733161G>C , CM000681.2:g.35733161G>C GRCh38
NC_000019.9:g.36224062G>C , CM000681.1:g.36224062G>C GRCh37
NC_000019.8:g.40915902G>C NCBI36
NG_052906.1:g.20143G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.918G>C
ENST00000673918.2:c.6546G>C ENSP00000501283.1:p.Met2182Ile
ENST00000674114.2:c.4153G>C ENSP00000501039.2:n.4153G>C
ENST00000684977.1:c.1830G>C ENSP00000509384.1:p.Met610Ile
ENST00000689544.1:n.1765G>C
ENST00000691421.1:c.1833G>C ENSP00000508674.1:p.Met611Ile
ENST00000691855.1:c.6154G>C
ENST00000692961.1:c.6612G>C ENSP00000509289.1:p.Met2204Ile
ENST00000693677.1:c.705-436G>C ENSP00000509779.1:n.705-436G>C
ENST00000420124.4:c.6612G>C MANE Select ENSP00000398837.2:p.Met2204Ile
ENST00000673918.1:c.6546G>C ENSP00000501283.1:p.Met2182Ile
ENST00000674114.1:c.3934G>C
ENST00000420124.2:c.6612G>C ENSP00000398837.1:p.Met2204Ile
NM_014727.2:c.6612G>C NP_055542.1:p.Met2204Ile
XM_011527561.1:c.6546G>C XP_011525863.1:p.Met2182Ile
XM_011527562.1:c.6612G>C XP_011525864.1:p.Met2204Ile
XM_011527563.1:c.6336G>C XP_011525865.1:p.Met2112Ile
XM_011527561.2:c.6048G>C XP_011525863.2:p.Met2016Ile
XM_011527562.2:c.6612G>C XP_011525864.1:p.Met2204Ile
XM_017027544.1:c.6612G>C XP_016883033.1:p.Met2204Ile
XM_017027545.1:c.6048G>C XP_016883034.1:p.Met2016Ile
XM_017027546.1:c.3576G>C XP_016883035.1:p.Met1192Ile
NM_014727.3:c.6612G>C MANE Select NP_055542.1:p.Met2204Ile