Canonical Allele Identifier: CA405419223
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730081A>C , CM000681.2:g.35730081A>C GRCh38
NC_000019.9:g.36220982A>C , CM000681.1:g.36220982A>C GRCh37
NC_000019.8:g.40912822A>C NCBI36
NG_052906.1:g.17063A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4966A>C ENSP00000501283.1:p.Lys1656Gln
ENST00000674114.2:c.2573A>C ENSP00000501039.2:n.2573A>C
ENST00000684977.1:c.250A>C ENSP00000509384.1:p.Lys84Gln
ENST00000685168.1:c.458A>C
ENST00000689544.1:n.185A>C
ENST00000691421.1:c.253A>C ENSP00000508674.1:p.Lys85Gln
ENST00000691855.1:c.4574A>C
ENST00000692961.1:c.5032A>C ENSP00000509289.1:p.Lys1678Gln
ENST00000420124.4:c.5032A>C MANE Select ENSP00000398837.2:p.Lys1678Gln
ENST00000673918.1:c.4966A>C ENSP00000501283.1:p.Lys1656Gln
ENST00000674114.1:c.2354A>C
ENST00000420124.2:c.5032A>C ENSP00000398837.1:p.Lys1678Gln
NM_014727.2:c.5032A>C NP_055542.1:p.Lys1678Gln
XM_011527561.1:c.4966A>C XP_011525863.1:p.Lys1656Gln
XM_011527562.1:c.5032A>C XP_011525864.1:p.Lys1678Gln
XM_011527563.1:c.4756A>C XP_011525865.1:p.Lys1586Gln
XM_011527561.2:c.4468A>C XP_011525863.2:p.Lys1490Gln
XM_011527562.2:c.5032A>C XP_011525864.1:p.Lys1678Gln
XM_017027544.1:c.5032A>C XP_016883033.1:p.Lys1678Gln
XM_017027545.1:c.4468A>C XP_016883034.1:p.Lys1490Gln
XM_017027546.1:c.1996A>C XP_016883035.1:p.Lys666Gln
NM_014727.3:c.5032A>C MANE Select NP_055542.1:p.Lys1678Gln