Canonical Allele Identifier: CA2850447411
Gene: KMT2B HGNC NCBI

Linked Data

MutSpliceDB: CA2850447411

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35737633C>G , CM000681.2:g.35737633C>G GRCh38
NC_000019.9:g.36228534C>G , CM000681.1:g.36228534C>G GRCh37
NC_000019.8:g.40920374C>G NCBI36
NG_052906.1:g.24615C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.2021-3C>G
ENST00000673918.2:c.7485-3C>G ENSP00000501283.1:n.7485-3C>G
ENST00000674114.2:c.5092-3C>G ENSP00000501039.2:n.5092-3C>G
ENST00000689544.1:n.2792-3C>G
ENST00000691855.1:c.7093-3C>G
ENST00000692961.1:c.*236-3C>G ENSP00000509289.1:n.*236-3C>G
ENST00000693161.1:c.214-3C>G
ENST00000693175.1:c.600-3C>G
ENST00000693677.1:c.1296-3C>G ENSP00000509779.1:n.1296-3C>G
ENST00000420124.4:c.7551-3C>G MANE Select ENSP00000398837.2:n.7551-3C>G
ENST00000673918.1:c.7485-3C>G ENSP00000501283.1:n.7485-3C>G
ENST00000674101.1:c.436C>G
ENST00000674114.1:c.4873-3C>G
ENST00000420124.2:c.7551-3C>G ENSP00000398837.1:n.7551-3C>G
ENST00000585476.5:n.1946-3C>G
ENST00000586308.1:n.166C>G
NM_014727.2:c.7551-3C>G NP_055542.1:n.7551-3C>G
XM_011527561.1:c.7485-3C>G XP_011525863.1:n.7485-3C>G
XM_011527562.1:c.7595C>G XP_011525864.1:p.Ala2532Gly
XM_011527563.1:c.7275-3C>G XP_011525865.1:n.7275-3C>G
XM_011527561.2:c.6987-3C>G XP_011525863.2:n.6987-3C>G
XM_011527562.2:c.7595C>G XP_011525864.1:p.Ala2532Gly
XM_017027544.1:c.7461-3C>G XP_016883033.1:n.7461-3C>G
XM_017027545.1:c.6987-3C>G XP_016883034.1:n.6987-3C>G
XM_017027546.1:c.4515-3C>G XP_016883035.1:n.4515-3C>G
NM_014727.3:c.7551-3C>G MANE Select NP_055542.1:n.7551-3C>G