Canonical Allele Identifier: CA405418639
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729968G>T , CM000681.2:g.35729968G>T GRCh38
NC_000019.9:g.36220869G>T , CM000681.1:g.36220869G>T GRCh37
NC_000019.8:g.40912709G>T NCBI36
NG_052906.1:g.16950G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4853G>T ENSP00000501283.1:p.Arg1618Leu
ENST00000674114.2:c.2460G>T ENSP00000501039.2:n.2460G>T
ENST00000684977.1:c.137G>T ENSP00000509384.1:p.Arg46Leu
ENST00000685168.1:c.345G>T
ENST00000689544.1:n.72G>T
ENST00000691421.1:c.140G>T ENSP00000508674.1:p.Arg47Leu
ENST00000691855.1:c.4461G>T
ENST00000692961.1:c.4919G>T ENSP00000509289.1:p.Arg1640Leu
ENST00000420124.4:c.4919G>T MANE Select ENSP00000398837.2:p.Arg1640Leu
ENST00000673918.1:c.4853G>T ENSP00000501283.1:p.Arg1618Leu
ENST00000674114.1:c.2241G>T
ENST00000420124.2:c.4919G>T ENSP00000398837.1:p.Arg1640Leu
NM_014727.2:c.4919G>T NP_055542.1:p.Arg1640Leu
XM_011527561.1:c.4853G>T XP_011525863.1:p.Arg1618Leu
XM_011527562.1:c.4919G>T XP_011525864.1:p.Arg1640Leu
XM_011527563.1:c.4643G>T XP_011525865.1:p.Arg1548Leu
XM_011527561.2:c.4355G>T XP_011525863.2:p.Arg1452Leu
XM_011527562.2:c.4919G>T XP_011525864.1:p.Arg1640Leu
XM_017027544.1:c.4919G>T XP_016883033.1:p.Arg1640Leu
XM_017027545.1:c.4355G>T XP_016883034.1:p.Arg1452Leu
XM_017027546.1:c.1883G>T XP_016883035.1:p.Arg628Leu
NM_014727.3:c.4919G>T MANE Select NP_055542.1:p.Arg1640Leu