Canonical Allele Identifier: CA405418996
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730043T>C , CM000681.2:g.35730043T>C GRCh38
NC_000019.9:g.36220944T>C , CM000681.1:g.36220944T>C GRCh37
NC_000019.8:g.40912784T>C NCBI36
NG_052906.1:g.17025T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4928T>C ENSP00000501283.1:p.Met1643Thr
ENST00000674114.2:c.2535T>C ENSP00000501039.2:n.2535T>C
ENST00000684977.1:c.212T>C ENSP00000509384.1:p.Met71Thr
ENST00000685168.1:c.420T>C
ENST00000689544.1:n.147T>C
ENST00000691421.1:c.215T>C ENSP00000508674.1:p.Met72Thr
ENST00000691855.1:c.4536T>C
ENST00000692961.1:c.4994T>C ENSP00000509289.1:p.Met1665Thr
ENST00000420124.4:c.4994T>C MANE Select ENSP00000398837.2:p.Met1665Thr
ENST00000673918.1:c.4928T>C ENSP00000501283.1:p.Met1643Thr
ENST00000674114.1:c.2316T>C
ENST00000420124.2:c.4994T>C ENSP00000398837.1:p.Met1665Thr
NM_014727.2:c.4994T>C NP_055542.1:p.Met1665Thr
XM_011527561.1:c.4928T>C XP_011525863.1:p.Met1643Thr
XM_011527562.1:c.4994T>C XP_011525864.1:p.Met1665Thr
XM_011527563.1:c.4718T>C XP_011525865.1:p.Met1573Thr
XM_011527561.2:c.4430T>C XP_011525863.2:p.Met1477Thr
XM_011527562.2:c.4994T>C XP_011525864.1:p.Met1665Thr
XM_017027544.1:c.4994T>C XP_016883033.1:p.Met1665Thr
XM_017027545.1:c.4430T>C XP_016883034.1:p.Met1477Thr
XM_017027546.1:c.1958T>C XP_016883035.1:p.Met653Thr
NM_014727.3:c.4994T>C MANE Select NP_055542.1:p.Met1665Thr