Canonical Allele Identifier: CA405429273
Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 430116
ClinVar RCV Id: RCV000493342
dbSNP Id: rs1131691790

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35733105C>G , CM000681.2:g.35733105C>G GRCh38
NC_000019.9:g.36224006C>G , CM000681.1:g.36224006C>G GRCh37
NC_000019.8:g.40915846C>G NCBI36
NG_052906.1:g.20087C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.862C>G
ENST00000673918.2:c.6490C>G ENSP00000501283.1:p.Pro2164Ala
ENST00000674114.2:c.4097C>G ENSP00000501039.2:n.4097C>G
ENST00000684977.1:c.1774C>G ENSP00000509384.1:p.Pro592Ala
ENST00000689544.1:n.1709C>G
ENST00000691421.1:c.1777C>G ENSP00000508674.1:p.Pro593Ala
ENST00000691855.1:c.6098C>G
ENST00000692961.1:c.6556C>G ENSP00000509289.1:p.Pro2186Ala
ENST00000693677.1:c.705-492C>G ENSP00000509779.1:n.705-492C>G
ENST00000420124.4:c.6556C>G MANE Select ENSP00000398837.2:p.Pro2186Ala
ENST00000673918.1:c.6490C>G ENSP00000501283.1:p.Pro2164Ala
ENST00000674114.1:c.3878C>G
ENST00000420124.2:c.6556C>G ENSP00000398837.1:p.Pro2186Ala
NM_014727.2:c.6556C>G NP_055542.1:p.Pro2186Ala
XM_011527561.1:c.6490C>G XP_011525863.1:p.Pro2164Ala
XM_011527562.1:c.6556C>G XP_011525864.1:p.Pro2186Ala
XM_011527563.1:c.6280C>G XP_011525865.1:p.Pro2094Ala
XM_011527561.2:c.5992C>G XP_011525863.2:p.Pro1998Ala
XM_011527562.2:c.6556C>G XP_011525864.1:p.Pro2186Ala
XM_017027544.1:c.6556C>G XP_016883033.1:p.Pro2186Ala
XM_017027545.1:c.5992C>G XP_016883034.1:p.Pro1998Ala
XM_017027546.1:c.3520C>G XP_016883035.1:p.Pro1174Ala
NM_014727.3:c.6556C>G MANE Select NP_055542.1:p.Pro2186Ala