Canonical Allele Identifier: CA405428037
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732908A>T , CM000681.2:g.35732908A>T GRCh38
NC_000019.9:g.36223809A>T , CM000681.1:g.36223809A>T GRCh37
NC_000019.8:g.40915649A>T NCBI36
NG_052906.1:g.19890A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.665A>T
ENST00000673918.2:c.6293A>T ENSP00000501283.1:p.Asn2098Ile
ENST00000674114.2:c.3900A>T ENSP00000501039.2:n.3900A>T
ENST00000684977.1:c.1577A>T ENSP00000509384.1:p.Asn526Ile
ENST00000689544.1:n.1512A>T
ENST00000691421.1:c.1580A>T ENSP00000508674.1:p.Asn527Ile
ENST00000691855.1:c.5901A>T
ENST00000692961.1:c.6359A>T ENSP00000509289.1:p.Asn2120Ile
ENST00000693677.1:c.704+579A>T ENSP00000509779.1:n.704+579A>T
ENST00000420124.4:c.6359A>T MANE Select ENSP00000398837.2:p.Asn2120Ile
ENST00000673918.1:c.6293A>T ENSP00000501283.1:p.Asn2098Ile
ENST00000674114.1:c.3681A>T
ENST00000420124.2:c.6359A>T ENSP00000398837.1:p.Asn2120Ile
NM_014727.2:c.6359A>T NP_055542.1:p.Asn2120Ile
XM_011527561.1:c.6293A>T XP_011525863.1:p.Asn2098Ile
XM_011527562.1:c.6359A>T XP_011525864.1:p.Asn2120Ile
XM_011527563.1:c.6083A>T XP_011525865.1:p.Asn2028Ile
XM_011527561.2:c.5795A>T XP_011525863.2:p.Asn1932Ile
XM_011527562.2:c.6359A>T XP_011525864.1:p.Asn2120Ile
XM_017027544.1:c.6359A>T XP_016883033.1:p.Asn2120Ile
XM_017027545.1:c.5795A>T XP_016883034.1:p.Asn1932Ile
XM_017027546.1:c.3323A>T XP_016883035.1:p.Asn1108Ile
NM_014727.3:c.6359A>T MANE Select NP_055542.1:p.Asn2120Ile