Canonical Allele Identifier: CA405418643
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729970T>G , CM000681.2:g.35729970T>G GRCh38
NC_000019.9:g.36220871T>G , CM000681.1:g.36220871T>G GRCh37
NC_000019.8:g.40912711T>G NCBI36
NG_052906.1:g.16952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4855T>G ENSP00000501283.1:p.Cys1619Gly
ENST00000674114.2:c.2462T>G ENSP00000501039.2:n.2462T>G
ENST00000684977.1:c.139T>G ENSP00000509384.1:p.Cys47Gly
ENST00000685168.1:c.347T>G
ENST00000689544.1:n.74T>G
ENST00000691421.1:c.142T>G ENSP00000508674.1:p.Cys48Gly
ENST00000691855.1:c.4463T>G
ENST00000692961.1:c.4921T>G ENSP00000509289.1:p.Cys1641Gly
ENST00000420124.4:c.4921T>G MANE Select ENSP00000398837.2:p.Cys1641Gly
ENST00000673918.1:c.4855T>G ENSP00000501283.1:p.Cys1619Gly
ENST00000674114.1:c.2243T>G
ENST00000420124.2:c.4921T>G ENSP00000398837.1:p.Cys1641Gly
NM_014727.2:c.4921T>G NP_055542.1:p.Cys1641Gly
XM_011527561.1:c.4855T>G XP_011525863.1:p.Cys1619Gly
XM_011527562.1:c.4921T>G XP_011525864.1:p.Cys1641Gly
XM_011527563.1:c.4645T>G XP_011525865.1:p.Cys1549Gly
XM_011527561.2:c.4357T>G XP_011525863.2:p.Cys1453Gly
XM_011527562.2:c.4921T>G XP_011525864.1:p.Cys1641Gly
XM_017027544.1:c.4921T>G XP_016883033.1:p.Cys1641Gly
XM_017027545.1:c.4357T>G XP_016883034.1:p.Cys1453Gly
XM_017027546.1:c.1885T>G XP_016883035.1:p.Cys629Gly
NM_014727.3:c.4921T>G MANE Select NP_055542.1:p.Cys1641Gly