Canonical Allele Identifier: CA405418758
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729994G>C , CM000681.2:g.35729994G>C GRCh38
NC_000019.9:g.36220895G>C , CM000681.1:g.36220895G>C GRCh37
NC_000019.8:g.40912735G>C NCBI36
NG_052906.1:g.16976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4879G>C ENSP00000501283.1:p.Ala1627Pro
ENST00000674114.2:c.2486G>C ENSP00000501039.2:n.2486G>C
ENST00000684977.1:c.163G>C ENSP00000509384.1:p.Ala55Pro
ENST00000685168.1:c.371G>C
ENST00000689544.1:n.98G>C
ENST00000691421.1:c.166G>C ENSP00000508674.1:p.Ala56Pro
ENST00000691855.1:c.4487G>C
ENST00000692961.1:c.4945G>C ENSP00000509289.1:p.Ala1649Pro
ENST00000420124.4:c.4945G>C MANE Select ENSP00000398837.2:p.Ala1649Pro
ENST00000673918.1:c.4879G>C ENSP00000501283.1:p.Ala1627Pro
ENST00000674114.1:c.2267G>C
ENST00000420124.2:c.4945G>C ENSP00000398837.1:p.Ala1649Pro
NM_014727.2:c.4945G>C NP_055542.1:p.Ala1649Pro
XM_011527561.1:c.4879G>C XP_011525863.1:p.Ala1627Pro
XM_011527562.1:c.4945G>C XP_011525864.1:p.Ala1649Pro
XM_011527563.1:c.4669G>C XP_011525865.1:p.Ala1557Pro
XM_011527561.2:c.4381G>C XP_011525863.2:p.Ala1461Pro
XM_011527562.2:c.4945G>C XP_011525864.1:p.Ala1649Pro
XM_017027544.1:c.4945G>C XP_016883033.1:p.Ala1649Pro
XM_017027545.1:c.4381G>C XP_016883034.1:p.Ala1461Pro
XM_017027546.1:c.1909G>C XP_016883035.1:p.Ala637Pro
NM_014727.3:c.4945G>C MANE Select NP_055542.1:p.Ala1649Pro