Canonical Allele Identifier: CA405424742
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732499T>G , CM000681.2:g.35732499T>G GRCh38
NC_000019.9:g.36223400T>G , CM000681.1:g.36223400T>G GRCh37
NC_000019.8:g.40915240T>G NCBI36
NG_052906.1:g.19481T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.256T>G
ENST00000673918.2:c.5884T>G ENSP00000501283.1:p.Ser1962Ala
ENST00000674114.2:c.3491T>G ENSP00000501039.2:n.3491T>G
ENST00000684977.1:c.1168T>G ENSP00000509384.1:p.Ser390Ala
ENST00000689544.1:n.1103T>G
ENST00000691421.1:c.1171T>G ENSP00000508674.1:p.Ser391Ala
ENST00000691855.1:c.5492T>G
ENST00000692961.1:c.5950T>G ENSP00000509289.1:p.Ser1984Ala
ENST00000693677.1:c.704+170T>G ENSP00000509779.1:n.704+170T>G
ENST00000420124.4:c.5950T>G MANE Select ENSP00000398837.2:p.Ser1984Ala
ENST00000673918.1:c.5884T>G ENSP00000501283.1:p.Ser1962Ala
ENST00000674114.1:c.3272T>G
ENST00000420124.2:c.5950T>G ENSP00000398837.1:p.Ser1984Ala
NM_014727.2:c.5950T>G NP_055542.1:p.Ser1984Ala
XM_011527561.1:c.5884T>G XP_011525863.1:p.Ser1962Ala
XM_011527562.1:c.5950T>G XP_011525864.1:p.Ser1984Ala
XM_011527563.1:c.5674T>G XP_011525865.1:p.Ser1892Ala
XM_011527561.2:c.5386T>G XP_011525863.2:p.Ser1796Ala
XM_011527562.2:c.5950T>G XP_011525864.1:p.Ser1984Ala
XM_017027544.1:c.5950T>G XP_016883033.1:p.Ser1984Ala
XM_017027545.1:c.5386T>G XP_016883034.1:p.Ser1796Ala
XM_017027546.1:c.2914T>G XP_016883035.1:p.Ser972Ala
NM_014727.3:c.5950T>G MANE Select NP_055542.1:p.Ser1984Ala