Canonical Allele Identifier: CA405427825
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732880T>G , CM000681.2:g.35732880T>G GRCh38
NC_000019.9:g.36223781T>G , CM000681.1:g.36223781T>G GRCh37
NC_000019.8:g.40915621T>G NCBI36
NG_052906.1:g.19862T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.637T>G
ENST00000673918.2:c.6265T>G ENSP00000501283.1:p.Ser2089Ala
ENST00000674114.2:c.3872T>G ENSP00000501039.2:n.3872T>G
ENST00000684977.1:c.1549T>G ENSP00000509384.1:p.Ser517Ala
ENST00000689544.1:n.1484T>G
ENST00000691421.1:c.1552T>G ENSP00000508674.1:p.Ser518Ala
ENST00000691855.1:c.5873T>G
ENST00000692961.1:c.6331T>G ENSP00000509289.1:p.Ser2111Ala
ENST00000693677.1:c.704+551T>G ENSP00000509779.1:n.704+551T>G
ENST00000420124.4:c.6331T>G MANE Select ENSP00000398837.2:p.Ser2111Ala
ENST00000673918.1:c.6265T>G ENSP00000501283.1:p.Ser2089Ala
ENST00000674114.1:c.3653T>G
ENST00000420124.2:c.6331T>G ENSP00000398837.1:p.Ser2111Ala
NM_014727.2:c.6331T>G NP_055542.1:p.Ser2111Ala
XM_011527561.1:c.6265T>G XP_011525863.1:p.Ser2089Ala
XM_011527562.1:c.6331T>G XP_011525864.1:p.Ser2111Ala
XM_011527563.1:c.6055T>G XP_011525865.1:p.Ser2019Ala
XM_011527561.2:c.5767T>G XP_011525863.2:p.Ser1923Ala
XM_011527562.2:c.6331T>G XP_011525864.1:p.Ser2111Ala
XM_017027544.1:c.6331T>G XP_016883033.1:p.Ser2111Ala
XM_017027545.1:c.5767T>G XP_016883034.1:p.Ser1923Ala
XM_017027546.1:c.3295T>G XP_016883035.1:p.Ser1099Ala
NM_014727.3:c.6331T>G MANE Select NP_055542.1:p.Ser2111Ala