Canonical Allele Identifier: CA405428456
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs1969771009

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732979A>G , CM000681.2:g.35732979A>G GRCh38
NC_000019.9:g.36223880A>G , CM000681.1:g.36223880A>G GRCh37
NC_000019.8:g.40915720A>G NCBI36
NG_052906.1:g.19961A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.736A>G
ENST00000673918.2:c.6364A>G ENSP00000501283.1:p.Asn2122Asp
ENST00000674114.2:c.3971A>G ENSP00000501039.2:n.3971A>G
ENST00000684977.1:c.1648A>G ENSP00000509384.1:p.Asn550Asp
ENST00000689544.1:n.1583A>G
ENST00000691421.1:c.1651A>G ENSP00000508674.1:p.Asn551Asp
ENST00000691855.1:c.5972A>G
ENST00000692961.1:c.6430A>G ENSP00000509289.1:p.Asn2144Asp
ENST00000693677.1:c.705-618A>G ENSP00000509779.1:n.705-618A>G
ENST00000420124.4:c.6430A>G MANE Select ENSP00000398837.2:p.Asn2144Asp
ENST00000673918.1:c.6364A>G ENSP00000501283.1:p.Asn2122Asp
ENST00000674114.1:c.3752A>G
ENST00000420124.2:c.6430A>G ENSP00000398837.1:p.Asn2144Asp
NM_014727.2:c.6430A>G NP_055542.1:p.Asn2144Asp
XM_011527561.1:c.6364A>G XP_011525863.1:p.Asn2122Asp
XM_011527562.1:c.6430A>G XP_011525864.1:p.Asn2144Asp
XM_011527563.1:c.6154A>G XP_011525865.1:p.Asn2052Asp
XM_011527561.2:c.5866A>G XP_011525863.2:p.Asn1956Asp
XM_011527562.2:c.6430A>G XP_011525864.1:p.Asn2144Asp
XM_017027544.1:c.6430A>G XP_016883033.1:p.Asn2144Asp
XM_017027545.1:c.5866A>G XP_016883034.1:p.Asn1956Asp
XM_017027546.1:c.3394A>G XP_016883035.1:p.Asn1132Asp
NM_014727.3:c.6430A>G MANE Select NP_055542.1:p.Asn2144Asp