Canonical Allele Identifier: CA405419308
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730100A>T , CM000681.2:g.35730100A>T GRCh38
NC_000019.9:g.36221001A>T , CM000681.1:g.36221001A>T GRCh37
NC_000019.8:g.40912841A>T NCBI36
NG_052906.1:g.17082A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4985A>T ENSP00000501283.1:p.Lys1662Ile
ENST00000674114.2:c.2592A>T ENSP00000501039.2:n.2592A>T
ENST00000684977.1:c.269A>T ENSP00000509384.1:p.Lys90Ile
ENST00000685168.1:c.477A>T
ENST00000689544.1:n.204A>T
ENST00000691421.1:c.272A>T ENSP00000508674.1:p.Lys91Ile
ENST00000691855.1:c.4593A>T
ENST00000692961.1:c.5051A>T ENSP00000509289.1:p.Lys1684Ile
ENST00000420124.4:c.5051A>T MANE Select ENSP00000398837.2:p.Lys1684Ile
ENST00000673918.1:c.4985A>T ENSP00000501283.1:p.Lys1662Ile
ENST00000674114.1:c.2373A>T
ENST00000420124.2:c.5051A>T ENSP00000398837.1:p.Lys1684Ile
NM_014727.2:c.5051A>T NP_055542.1:p.Lys1684Ile
XM_011527561.1:c.4985A>T XP_011525863.1:p.Lys1662Ile
XM_011527562.1:c.5051A>T XP_011525864.1:p.Lys1684Ile
XM_011527563.1:c.4775A>T XP_011525865.1:p.Lys1592Ile
XM_011527561.2:c.4487A>T XP_011525863.2:p.Lys1496Ile
XM_011527562.2:c.5051A>T XP_011525864.1:p.Lys1684Ile
XM_017027544.1:c.5051A>T XP_016883033.1:p.Lys1684Ile
XM_017027545.1:c.4487A>T XP_016883034.1:p.Lys1496Ile
XM_017027546.1:c.2015A>T XP_016883035.1:p.Lys672Ile
NM_014727.3:c.5051A>T MANE Select NP_055542.1:p.Lys1684Ile