Canonical Allele Identifier: CA405427467
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732824G>C , CM000681.2:g.35732824G>C GRCh38
NC_000019.9:g.36223725G>C , CM000681.1:g.36223725G>C GRCh37
NC_000019.8:g.40915565G>C NCBI36
NG_052906.1:g.19806G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.581G>C
ENST00000673918.2:c.6209G>C ENSP00000501283.1:p.Arg2070Pro
ENST00000674114.2:c.3816G>C ENSP00000501039.2:n.3816G>C
ENST00000684977.1:c.1493G>C ENSP00000509384.1:p.Arg498Pro
ENST00000689544.1:n.1428G>C
ENST00000691421.1:c.1496G>C ENSP00000508674.1:p.Arg499Pro
ENST00000691855.1:c.5817G>C
ENST00000692961.1:c.6275G>C ENSP00000509289.1:p.Arg2092Pro
ENST00000693677.1:c.704+495G>C ENSP00000509779.1:n.704+495G>C
ENST00000420124.4:c.6275G>C MANE Select ENSP00000398837.2:p.Arg2092Pro
ENST00000673918.1:c.6209G>C ENSP00000501283.1:p.Arg2070Pro
ENST00000674114.1:c.3597G>C
ENST00000420124.2:c.6275G>C ENSP00000398837.1:p.Arg2092Pro
NM_014727.2:c.6275G>C NP_055542.1:p.Arg2092Pro
XM_011527561.1:c.6209G>C XP_011525863.1:p.Arg2070Pro
XM_011527562.1:c.6275G>C XP_011525864.1:p.Arg2092Pro
XM_011527563.1:c.5999G>C XP_011525865.1:p.Arg2000Pro
XM_011527561.2:c.5711G>C XP_011525863.2:p.Arg1904Pro
XM_011527562.2:c.6275G>C XP_011525864.1:p.Arg2092Pro
XM_017027544.1:c.6275G>C XP_016883033.1:p.Arg2092Pro
XM_017027545.1:c.5711G>C XP_016883034.1:p.Arg1904Pro
XM_017027546.1:c.3239G>C XP_016883035.1:p.Arg1080Pro
NM_014727.3:c.6275G>C MANE Select NP_055542.1:p.Arg2092Pro