Canonical Allele Identifier: CA405429376
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733132A>C , CM000681.2:g.35733132A>C GRCh38
NC_000019.9:g.36224033A>C , CM000681.1:g.36224033A>C GRCh37
NC_000019.8:g.40915873A>C NCBI36
NG_052906.1:g.20114A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.889A>C
ENST00000673918.2:c.6517A>C ENSP00000501283.1:p.Asn2173His
ENST00000674114.2:c.4124A>C ENSP00000501039.2:n.4124A>C
ENST00000684977.1:c.1801A>C ENSP00000509384.1:p.Asn601His
ENST00000689544.1:n.1736A>C
ENST00000691421.1:c.1804A>C ENSP00000508674.1:p.Asn602His
ENST00000691855.1:c.6125A>C
ENST00000692961.1:c.6583A>C ENSP00000509289.1:p.Asn2195His
ENST00000693677.1:c.705-465A>C ENSP00000509779.1:n.705-465A>C
ENST00000420124.4:c.6583A>C MANE Select ENSP00000398837.2:p.Asn2195His
ENST00000673918.1:c.6517A>C ENSP00000501283.1:p.Asn2173His
ENST00000674114.1:c.3905A>C
ENST00000420124.2:c.6583A>C ENSP00000398837.1:p.Asn2195His
NM_014727.2:c.6583A>C NP_055542.1:p.Asn2195His
XM_011527561.1:c.6517A>C XP_011525863.1:p.Asn2173His
XM_011527562.1:c.6583A>C XP_011525864.1:p.Asn2195His
XM_011527563.1:c.6307A>C XP_011525865.1:p.Asn2103His
XM_011527561.2:c.6019A>C XP_011525863.2:p.Asn2007His
XM_011527562.2:c.6583A>C XP_011525864.1:p.Asn2195His
XM_017027544.1:c.6583A>C XP_016883033.1:p.Asn2195His
XM_017027545.1:c.6019A>C XP_016883034.1:p.Asn2007His
XM_017027546.1:c.3547A>C XP_016883035.1:p.Asn1183His
NM_014727.3:c.6583A>C MANE Select NP_055542.1:p.Asn2195His