Canonical Allele Identifier: CA16043949
Gene: KMT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 374873
ClinVar RCV Id: RCV000415591
dbSNP Id: rs1057519281

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35721775C>T , CM000681.2:g.35721775C>T GRCh38
NC_000019.9:g.36212677C>T , CM000681.1:g.36212677C>T GRCh37
NC_000019.8:g.40904517C>T NCBI36
NG_052906.1:g.8757C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.2362C>T ENSP00000501283.1:p.Gln788Ter
ENST00000687718.1:c.*1929C>T ENSP00000510535.1:n.*1929C>T
ENST00000689139.1:c.1926C>T
ENST00000691855.1:c.1926C>T
ENST00000692961.1:c.2428C>T ENSP00000509289.1:p.Gln810Ter
ENST00000420124.4:c.2428C>T MANE Select ENSP00000398837.2:p.Gln810Ter
ENST00000673918.1:c.2362C>T ENSP00000501283.1:p.Gln788Ter
ENST00000420124.2:c.2428C>T ENSP00000398837.1:p.Gln810Ter
NM_014727.2:c.2428C>T NP_055542.1:p.Gln810Ter
XM_011527561.1:c.2362C>T XP_011525863.1:p.Gln788Ter
XM_011527562.1:c.2428C>T XP_011525864.1:p.Gln810Ter
XM_011527563.1:c.2428C>T XP_011525865.1:p.Gln810Ter
XR_935878.1:n.2452C>T
XM_011527561.2:c.1864C>T XP_011525863.2:p.Gln622Ter
XM_011527562.2:c.2428C>T XP_011525864.1:p.Gln810Ter
XM_017027544.1:c.2428C>T XP_016883033.1:p.Gln810Ter
XM_017027545.1:c.1864C>T XP_016883034.1:p.Gln622Ter
XR_935878.2:n.2629C>T
NM_014727.3:c.2428C>T MANE Select NP_055542.1:p.Gln810Ter