Canonical Allele Identifier: CA405418962
Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 426700
ClinVar RCV Id: RCV000489276
dbSNP Id: rs1085307751

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730037A>C , CM000681.2:g.35730037A>C GRCh38
NC_000019.9:g.36220938A>C , CM000681.1:g.36220938A>C GRCh37
NC_000019.8:g.40912778A>C NCBI36
NG_052906.1:g.17019A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.4922A>C ENSP00000501283.1:p.His1641Pro
ENST00000674114.2:c.2529A>C ENSP00000501039.2:n.2529A>C
ENST00000684977.1:c.206A>C ENSP00000509384.1:p.His69Pro
ENST00000685168.1:c.414A>C
ENST00000689544.1:n.141A>C
ENST00000691421.1:c.209A>C ENSP00000508674.1:p.His70Pro
ENST00000691855.1:c.4530A>C
ENST00000692961.1:c.4988A>C ENSP00000509289.1:p.His1663Pro
ENST00000420124.4:c.4988A>C MANE Select ENSP00000398837.2:p.His1663Pro
ENST00000673918.1:c.4922A>C ENSP00000501283.1:p.His1641Pro
ENST00000674114.1:c.2310A>C
ENST00000420124.2:c.4988A>C ENSP00000398837.1:p.His1663Pro
NM_014727.2:c.4988A>C NP_055542.1:p.His1663Pro
XM_011527561.1:c.4922A>C XP_011525863.1:p.His1641Pro
XM_011527562.1:c.4988A>C XP_011525864.1:p.His1663Pro
XM_011527563.1:c.4712A>C XP_011525865.1:p.His1571Pro
XM_011527561.2:c.4424A>C XP_011525863.2:p.His1475Pro
XM_011527562.2:c.4988A>C XP_011525864.1:p.His1663Pro
XM_017027544.1:c.4988A>C XP_016883033.1:p.His1663Pro
XM_017027545.1:c.4424A>C XP_016883034.1:p.His1475Pro
XM_017027546.1:c.1952A>C XP_016883035.1:p.His651Pro
NM_014727.3:c.4988A>C MANE Select NP_055542.1:p.His1663Pro