Canonical Allele Identifier: CA405419277
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730088T>A , CM000681.2:g.35730088T>A GRCh38
NC_000019.9:g.36220989T>A , CM000681.1:g.36220989T>A GRCh37
NC_000019.8:g.40912829T>A NCBI36
NG_052906.1:g.17070T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4973T>A ENSP00000501283.1:p.Val1658Asp
ENST00000674114.2:c.2580T>A ENSP00000501039.2:n.2580T>A
ENST00000684977.1:c.257T>A ENSP00000509384.1:p.Val86Asp
ENST00000685168.1:c.465T>A
ENST00000689544.1:n.192T>A
ENST00000691421.1:c.260T>A ENSP00000508674.1:p.Val87Asp
ENST00000691855.1:c.4581T>A
ENST00000692961.1:c.5039T>A ENSP00000509289.1:p.Val1680Asp
ENST00000420124.4:c.5039T>A MANE Select ENSP00000398837.2:p.Val1680Asp
ENST00000673918.1:c.4973T>A ENSP00000501283.1:p.Val1658Asp
ENST00000674114.1:c.2361T>A
ENST00000420124.2:c.5039T>A ENSP00000398837.1:p.Val1680Asp
NM_014727.2:c.5039T>A NP_055542.1:p.Val1680Asp
XM_011527561.1:c.4973T>A XP_011525863.1:p.Val1658Asp
XM_011527562.1:c.5039T>A XP_011525864.1:p.Val1680Asp
XM_011527563.1:c.4763T>A XP_011525865.1:p.Val1588Asp
XM_011527561.2:c.4475T>A XP_011525863.2:p.Val1492Asp
XM_011527562.2:c.5039T>A XP_011525864.1:p.Val1680Asp
XM_017027544.1:c.5039T>A XP_016883033.1:p.Val1680Asp
XM_017027545.1:c.4475T>A XP_016883034.1:p.Val1492Asp
XM_017027546.1:c.2003T>A XP_016883035.1:p.Val668Asp
NM_014727.3:c.5039T>A MANE Select NP_055542.1:p.Val1680Asp