Canonical Allele Identifier: CA405419306
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730099A>G , CM000681.2:g.35730099A>G GRCh38
NC_000019.9:g.36221000A>G , CM000681.1:g.36221000A>G GRCh37
NC_000019.8:g.40912840A>G NCBI36
NG_052906.1:g.17081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4984A>G ENSP00000501283.1:p.Lys1662Glu
ENST00000674114.2:c.2591A>G ENSP00000501039.2:n.2591A>G
ENST00000684977.1:c.268A>G ENSP00000509384.1:p.Lys90Glu
ENST00000685168.1:c.476A>G
ENST00000689544.1:n.203A>G
ENST00000691421.1:c.271A>G ENSP00000508674.1:p.Lys91Glu
ENST00000691855.1:c.4592A>G
ENST00000692961.1:c.5050A>G ENSP00000509289.1:p.Lys1684Glu
ENST00000420124.4:c.5050A>G MANE Select ENSP00000398837.2:p.Lys1684Glu
ENST00000673918.1:c.4984A>G ENSP00000501283.1:p.Lys1662Glu
ENST00000674114.1:c.2372A>G
ENST00000420124.2:c.5050A>G ENSP00000398837.1:p.Lys1684Glu
NM_014727.2:c.5050A>G NP_055542.1:p.Lys1684Glu
XM_011527561.1:c.4984A>G XP_011525863.1:p.Lys1662Glu
XM_011527562.1:c.5050A>G XP_011525864.1:p.Lys1684Glu
XM_011527563.1:c.4774A>G XP_011525865.1:p.Lys1592Glu
XM_011527561.2:c.4486A>G XP_011525863.2:p.Lys1496Glu
XM_011527562.2:c.5050A>G XP_011525864.1:p.Lys1684Glu
XM_017027544.1:c.5050A>G XP_016883033.1:p.Lys1684Glu
XM_017027545.1:c.4486A>G XP_016883034.1:p.Lys1496Glu
XM_017027546.1:c.2014A>G XP_016883035.1:p.Lys672Glu
NM_014727.3:c.5050A>G MANE Select NP_055542.1:p.Lys1684Glu