Canonical Allele Identifier: CA405427708
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732862C>G , CM000681.2:g.35732862C>G GRCh38
NC_000019.9:g.36223763C>G , CM000681.1:g.36223763C>G GRCh37
NC_000019.8:g.40915603C>G NCBI36
NG_052906.1:g.19844C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.619C>G
ENST00000673918.2:c.6247C>G ENSP00000501283.1:p.Pro2083Ala
ENST00000674114.2:c.3854C>G ENSP00000501039.2:n.3854C>G
ENST00000684977.1:c.1531C>G ENSP00000509384.1:p.Pro511Ala
ENST00000689544.1:n.1466C>G
ENST00000691421.1:c.1534C>G ENSP00000508674.1:p.Pro512Ala
ENST00000691855.1:c.5855C>G
ENST00000692961.1:c.6313C>G ENSP00000509289.1:p.Pro2105Ala
ENST00000693677.1:c.704+533C>G ENSP00000509779.1:n.704+533C>G
ENST00000420124.4:c.6313C>G MANE Select ENSP00000398837.2:p.Pro2105Ala
ENST00000673918.1:c.6247C>G ENSP00000501283.1:p.Pro2083Ala
ENST00000674114.1:c.3635C>G
ENST00000420124.2:c.6313C>G ENSP00000398837.1:p.Pro2105Ala
NM_014727.2:c.6313C>G NP_055542.1:p.Pro2105Ala
XM_011527561.1:c.6247C>G XP_011525863.1:p.Pro2083Ala
XM_011527562.1:c.6313C>G XP_011525864.1:p.Pro2105Ala
XM_011527563.1:c.6037C>G XP_011525865.1:p.Pro2013Ala
XM_011527561.2:c.5749C>G XP_011525863.2:p.Pro1917Ala
XM_011527562.2:c.6313C>G XP_011525864.1:p.Pro2105Ala
XM_017027544.1:c.6313C>G XP_016883033.1:p.Pro2105Ala
XM_017027545.1:c.5749C>G XP_016883034.1:p.Pro1917Ala
XM_017027546.1:c.3277C>G XP_016883035.1:p.Pro1093Ala
NM_014727.3:c.6313C>G MANE Select NP_055542.1:p.Pro2105Ala