Canonical Allele Identifier: CA405419259
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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