Canonical Allele Identifier: CA405427277
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732796A>C , CM000681.2:g.35732796A>C GRCh38
NC_000019.9:g.36223697A>C , CM000681.1:g.36223697A>C GRCh37
NC_000019.8:g.40915537A>C NCBI36
NG_052906.1:g.19778A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.553A>C
ENST00000673918.2:c.6181A>C ENSP00000501283.1:p.Thr2061Pro
ENST00000674114.2:c.3788A>C ENSP00000501039.2:n.3788A>C
ENST00000684977.1:c.1465A>C ENSP00000509384.1:p.Thr489Pro
ENST00000689544.1:n.1400A>C
ENST00000691421.1:c.1468A>C ENSP00000508674.1:p.Thr490Pro
ENST00000691855.1:c.5789A>C
ENST00000692961.1:c.6247A>C ENSP00000509289.1:p.Thr2083Pro
ENST00000693677.1:c.704+467A>C ENSP00000509779.1:n.704+467A>C
ENST00000420124.4:c.6247A>C MANE Select ENSP00000398837.2:p.Thr2083Pro
ENST00000673918.1:c.6181A>C ENSP00000501283.1:p.Thr2061Pro
ENST00000674114.1:c.3569A>C
ENST00000420124.2:c.6247A>C ENSP00000398837.1:p.Thr2083Pro
NM_014727.2:c.6247A>C NP_055542.1:p.Thr2083Pro
XM_011527561.1:c.6181A>C XP_011525863.1:p.Thr2061Pro
XM_011527562.1:c.6247A>C XP_011525864.1:p.Thr2083Pro
XM_011527563.1:c.5971A>C XP_011525865.1:p.Thr1991Pro
XM_011527561.2:c.5683A>C XP_011525863.2:p.Thr1895Pro
XM_011527562.2:c.6247A>C XP_011525864.1:p.Thr2083Pro
XM_017027544.1:c.6247A>C XP_016883033.1:p.Thr2083Pro
XM_017027545.1:c.5683A>C XP_016883034.1:p.Thr1895Pro
XM_017027546.1:c.3211A>C XP_016883035.1:p.Thr1071Pro
NM_014727.3:c.6247A>C MANE Select NP_055542.1:p.Thr2083Pro