Canonical Allele Identifier: CA405427953
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732897T>G , CM000681.2:g.35732897T>G GRCh38
NC_000019.9:g.36223798T>G , CM000681.1:g.36223798T>G GRCh37
NC_000019.8:g.40915638T>G NCBI36
NG_052906.1:g.19879T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.654T>G
ENST00000673918.2:c.6282T>G ENSP00000501283.1:p.Phe2094Leu
ENST00000674114.2:c.3889T>G ENSP00000501039.2:n.3889T>G
ENST00000684977.1:c.1566T>G ENSP00000509384.1:p.Phe522Leu
ENST00000689544.1:n.1501T>G
ENST00000691421.1:c.1569T>G ENSP00000508674.1:p.Phe523Leu
ENST00000691855.1:c.5890T>G
ENST00000692961.1:c.6348T>G ENSP00000509289.1:p.Phe2116Leu
ENST00000693677.1:c.704+568T>G ENSP00000509779.1:n.704+568T>G
ENST00000420124.4:c.6348T>G MANE Select ENSP00000398837.2:p.Phe2116Leu
ENST00000673918.1:c.6282T>G ENSP00000501283.1:p.Phe2094Leu
ENST00000674114.1:c.3670T>G
ENST00000420124.2:c.6348T>G ENSP00000398837.1:p.Phe2116Leu
NM_014727.2:c.6348T>G NP_055542.1:p.Phe2116Leu
XM_011527561.1:c.6282T>G XP_011525863.1:p.Phe2094Leu
XM_011527562.1:c.6348T>G XP_011525864.1:p.Phe2116Leu
XM_011527563.1:c.6072T>G XP_011525865.1:p.Phe2024Leu
XM_011527561.2:c.5784T>G XP_011525863.2:p.Phe1928Leu
XM_011527562.2:c.6348T>G XP_011525864.1:p.Phe2116Leu
XM_017027544.1:c.6348T>G XP_016883033.1:p.Phe2116Leu
XM_017027545.1:c.5784T>G XP_016883034.1:p.Phe1928Leu
XM_017027546.1:c.3312T>G XP_016883035.1:p.Phe1104Leu
NM_014727.3:c.6348T>G MANE Select NP_055542.1:p.Phe2116Leu