Canonical Allele Identifier: CA405418724
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729986A>C , CM000681.2:g.35729986A>C GRCh38
NC_000019.9:g.36220887A>C , CM000681.1:g.36220887A>C GRCh37
NC_000019.8:g.40912727A>C NCBI36
NG_052906.1:g.16968A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4871A>C ENSP00000501283.1:p.Lys1624Thr
ENST00000674114.2:c.2478A>C ENSP00000501039.2:n.2478A>C
ENST00000684977.1:c.155A>C ENSP00000509384.1:p.Lys52Thr
ENST00000685168.1:c.363A>C
ENST00000689544.1:n.90A>C
ENST00000691421.1:c.158A>C ENSP00000508674.1:p.Lys53Thr
ENST00000691855.1:c.4479A>C
ENST00000692961.1:c.4937A>C ENSP00000509289.1:p.Lys1646Thr
ENST00000420124.4:c.4937A>C MANE Select ENSP00000398837.2:p.Lys1646Thr
ENST00000673918.1:c.4871A>C ENSP00000501283.1:p.Lys1624Thr
ENST00000674114.1:c.2259A>C
ENST00000420124.2:c.4937A>C ENSP00000398837.1:p.Lys1646Thr
NM_014727.2:c.4937A>C NP_055542.1:p.Lys1646Thr
XM_011527561.1:c.4871A>C XP_011525863.1:p.Lys1624Thr
XM_011527562.1:c.4937A>C XP_011525864.1:p.Lys1646Thr
XM_011527563.1:c.4661A>C XP_011525865.1:p.Lys1554Thr
XM_011527561.2:c.4373A>C XP_011525863.2:p.Lys1458Thr
XM_011527562.2:c.4937A>C XP_011525864.1:p.Lys1646Thr
XM_017027544.1:c.4937A>C XP_016883033.1:p.Lys1646Thr
XM_017027545.1:c.4373A>C XP_016883034.1:p.Lys1458Thr
XM_017027546.1:c.1901A>C XP_016883035.1:p.Lys634Thr
NM_014727.3:c.4937A>C MANE Select NP_055542.1:p.Lys1646Thr