Canonical Allele Identifier: CA405418699
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729980G>A , CM000681.2:g.35729980G>A GRCh38
NC_000019.9:g.36220881G>A , CM000681.1:g.36220881G>A GRCh37
NC_000019.8:g.40912721G>A NCBI36
NG_052906.1:g.16962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4865G>A ENSP00000501283.1:p.Cys1622Tyr
ENST00000674114.2:c.2472G>A ENSP00000501039.2:n.2472G>A
ENST00000684977.1:c.149G>A ENSP00000509384.1:p.Cys50Tyr
ENST00000685168.1:c.357G>A
ENST00000689544.1:n.84G>A
ENST00000691421.1:c.152G>A ENSP00000508674.1:p.Cys51Tyr
ENST00000691855.1:c.4473G>A
ENST00000692961.1:c.4931G>A ENSP00000509289.1:p.Cys1644Tyr
ENST00000420124.4:c.4931G>A MANE Select ENSP00000398837.2:p.Cys1644Tyr
ENST00000673918.1:c.4865G>A ENSP00000501283.1:p.Cys1622Tyr
ENST00000674114.1:c.2253G>A
ENST00000420124.2:c.4931G>A ENSP00000398837.1:p.Cys1644Tyr
NM_014727.2:c.4931G>A NP_055542.1:p.Cys1644Tyr
XM_011527561.1:c.4865G>A XP_011525863.1:p.Cys1622Tyr
XM_011527562.1:c.4931G>A XP_011525864.1:p.Cys1644Tyr
XM_011527563.1:c.4655G>A XP_011525865.1:p.Cys1552Tyr
XM_011527561.2:c.4367G>A XP_011525863.2:p.Cys1456Tyr
XM_011527562.2:c.4931G>A XP_011525864.1:p.Cys1644Tyr
XM_017027544.1:c.4931G>A XP_016883033.1:p.Cys1644Tyr
XM_017027545.1:c.4367G>A XP_016883034.1:p.Cys1456Tyr
XM_017027546.1:c.1895G>A XP_016883035.1:p.Cys632Tyr
NM_014727.3:c.4931G>A MANE Select NP_055542.1:p.Cys1644Tyr