Canonical Allele Identifier: CA405418906
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730025T>G , CM000681.2:g.35730025T>G GRCh38
NC_000019.9:g.36220926T>G , CM000681.1:g.36220926T>G GRCh37
NC_000019.8:g.40912766T>G NCBI36
NG_052906.1:g.17007T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4910T>G ENSP00000501283.1:p.Leu1637Arg
ENST00000674114.2:c.2517T>G ENSP00000501039.2:n.2517T>G
ENST00000684977.1:c.194T>G ENSP00000509384.1:p.Leu65Arg
ENST00000685168.1:c.402T>G
ENST00000689544.1:n.129T>G
ENST00000691421.1:c.197T>G ENSP00000508674.1:p.Leu66Arg
ENST00000691855.1:c.4518T>G
ENST00000692961.1:c.4976T>G ENSP00000509289.1:p.Leu1659Arg
ENST00000420124.4:c.4976T>G MANE Select ENSP00000398837.2:p.Leu1659Arg
ENST00000673918.1:c.4910T>G ENSP00000501283.1:p.Leu1637Arg
ENST00000674114.1:c.2298T>G
ENST00000420124.2:c.4976T>G ENSP00000398837.1:p.Leu1659Arg
NM_014727.2:c.4976T>G NP_055542.1:p.Leu1659Arg
XM_011527561.1:c.4910T>G XP_011525863.1:p.Leu1637Arg
XM_011527562.1:c.4976T>G XP_011525864.1:p.Leu1659Arg
XM_011527563.1:c.4700T>G XP_011525865.1:p.Leu1567Arg
XM_011527561.2:c.4412T>G XP_011525863.2:p.Leu1471Arg
XM_011527562.2:c.4976T>G XP_011525864.1:p.Leu1659Arg
XM_017027544.1:c.4976T>G XP_016883033.1:p.Leu1659Arg
XM_017027545.1:c.4412T>G XP_016883034.1:p.Leu1471Arg
XM_017027546.1:c.1940T>G XP_016883035.1:p.Leu647Arg
NM_014727.3:c.4976T>G MANE Select NP_055542.1:p.Leu1659Arg