Canonical Allele Identifier: CA405418907
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4910T>C ENSP00000501283.1:p.Leu1637Pro
ENST00000674114.2:c.2517T>C ENSP00000501039.2:n.2517T>C
ENST00000684977.1:c.194T>C ENSP00000509384.1:p.Leu65Pro
ENST00000685168.1:c.402T>C
ENST00000689544.1:n.129T>C
ENST00000691421.1:c.197T>C ENSP00000508674.1:p.Leu66Pro
ENST00000691855.1:c.4518T>C
ENST00000692961.1:c.4976T>C ENSP00000509289.1:p.Leu1659Pro
ENST00000420124.4:c.4976T>C MANE Select ENSP00000398837.2:p.Leu1659Pro
ENST00000673918.1:c.4910T>C ENSP00000501283.1:p.Leu1637Pro
ENST00000674114.1:c.2298T>C
ENST00000420124.2:c.4976T>C ENSP00000398837.1:p.Leu1659Pro
NM_014727.2:c.4976T>C NP_055542.1:p.Leu1659Pro
XM_011527561.1:c.4910T>C XP_011525863.1:p.Leu1637Pro
XM_011527562.1:c.4976T>C XP_011525864.1:p.Leu1659Pro
XM_011527563.1:c.4700T>C XP_011525865.1:p.Leu1567Pro
XM_011527561.2:c.4412T>C XP_011525863.2:p.Leu1471Pro
XM_011527562.2:c.4976T>C XP_011525864.1:p.Leu1659Pro
XM_017027544.1:c.4976T>C XP_016883033.1:p.Leu1659Pro
XM_017027545.1:c.4412T>C XP_016883034.1:p.Leu1471Pro
XM_017027546.1:c.1940T>C XP_016883035.1:p.Leu647Pro
NM_014727.3:c.4976T>C MANE Select NP_055542.1:p.Leu1659Pro