Canonical Allele Identifier: CA405419262
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730086A>T , CM000681.2:g.35730086A>T GRCh38
NC_000019.9:g.36220987A>T , CM000681.1:g.36220987A>T GRCh37
NC_000019.8:g.40912827A>T NCBI36
NG_052906.1:g.17068A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4971A>T ENSP00000501283.1:p.Lys1657Asn
ENST00000674114.2:c.2578A>T ENSP00000501039.2:n.2578A>T
ENST00000684977.1:c.255A>T ENSP00000509384.1:p.Lys85Asn
ENST00000685168.1:c.463A>T
ENST00000689544.1:n.190A>T
ENST00000691421.1:c.258A>T ENSP00000508674.1:p.Lys86Asn
ENST00000691855.1:c.4579A>T
ENST00000692961.1:c.5037A>T ENSP00000509289.1:p.Lys1679Asn
ENST00000420124.4:c.5037A>T MANE Select ENSP00000398837.2:p.Lys1679Asn
ENST00000673918.1:c.4971A>T ENSP00000501283.1:p.Lys1657Asn
ENST00000674114.1:c.2359A>T
ENST00000420124.2:c.5037A>T ENSP00000398837.1:p.Lys1679Asn
NM_014727.2:c.5037A>T NP_055542.1:p.Lys1679Asn
XM_011527561.1:c.4971A>T XP_011525863.1:p.Lys1657Asn
XM_011527562.1:c.5037A>T XP_011525864.1:p.Lys1679Asn
XM_011527563.1:c.4761A>T XP_011525865.1:p.Lys1587Asn
XM_011527561.2:c.4473A>T XP_011525863.2:p.Lys1491Asn
XM_011527562.2:c.5037A>T XP_011525864.1:p.Lys1679Asn
XM_017027544.1:c.5037A>T XP_016883033.1:p.Lys1679Asn
XM_017027545.1:c.4473A>T XP_016883034.1:p.Lys1491Asn
XM_017027546.1:c.2001A>T XP_016883035.1:p.Lys667Asn
NM_014727.3:c.5037A>T MANE Select NP_055542.1:p.Lys1679Asn