Canonical Allele Identifier: CA405425346
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732588G>C , CM000681.2:g.35732588G>C GRCh38
NC_000019.9:g.36223489G>C , CM000681.1:g.36223489G>C GRCh37
NC_000019.8:g.40915329G>C NCBI36
NG_052906.1:g.19570G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.345G>C
ENST00000673918.2:c.5973G>C ENSP00000501283.1:p.Met1991Ile
ENST00000674114.2:c.3580G>C ENSP00000501039.2:n.3580G>C
ENST00000684977.1:c.1257G>C ENSP00000509384.1:p.Met419Ile
ENST00000689544.1:n.1192G>C
ENST00000691421.1:c.1260G>C ENSP00000508674.1:p.Met420Ile
ENST00000691855.1:c.5581G>C
ENST00000692961.1:c.6039G>C ENSP00000509289.1:p.Met2013Ile
ENST00000693677.1:c.704+259G>C ENSP00000509779.1:n.704+259G>C
ENST00000420124.4:c.6039G>C MANE Select ENSP00000398837.2:p.Met2013Ile
ENST00000673918.1:c.5973G>C ENSP00000501283.1:p.Met1991Ile
ENST00000674114.1:c.3361G>C
ENST00000420124.2:c.6039G>C ENSP00000398837.1:p.Met2013Ile
NM_014727.2:c.6039G>C NP_055542.1:p.Met2013Ile
XM_011527561.1:c.5973G>C XP_011525863.1:p.Met1991Ile
XM_011527562.1:c.6039G>C XP_011525864.1:p.Met2013Ile
XM_011527563.1:c.5763G>C XP_011525865.1:p.Met1921Ile
XM_011527561.2:c.5475G>C XP_011525863.2:p.Met1825Ile
XM_011527562.2:c.6039G>C XP_011525864.1:p.Met2013Ile
XM_017027544.1:c.6039G>C XP_016883033.1:p.Met2013Ile
XM_017027545.1:c.5475G>C XP_016883034.1:p.Met1825Ile
XM_017027546.1:c.3003G>C XP_016883035.1:p.Met1001Ile
NM_014727.3:c.6039G>C MANE Select NP_055542.1:p.Met2013Ile