Canonical Allele Identifier: CA405419361
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730124A>G , CM000681.2:g.35730124A>G GRCh38
NC_000019.9:g.36221025A>G , CM000681.1:g.36221025A>G GRCh37
NC_000019.8:g.40912865A>G NCBI36
NG_052906.1:g.17106A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.5009A>G ENSP00000501283.1:p.Lys1670Arg
ENST00000674114.2:c.2616A>G ENSP00000501039.2:n.2616A>G
ENST00000684977.1:c.293A>G ENSP00000509384.1:p.Lys98Arg
ENST00000685168.1:c.501A>G
ENST00000689544.1:n.228A>G
ENST00000691421.1:c.296A>G ENSP00000508674.1:p.Lys99Arg
ENST00000691855.1:c.4617A>G
ENST00000692961.1:c.5075A>G ENSP00000509289.1:p.Lys1692Arg
ENST00000420124.4:c.5075A>G MANE Select ENSP00000398837.2:p.Lys1692Arg
ENST00000673918.1:c.5009A>G ENSP00000501283.1:p.Lys1670Arg
ENST00000674114.1:c.2397A>G
ENST00000420124.2:c.5075A>G ENSP00000398837.1:p.Lys1692Arg
NM_014727.2:c.5075A>G NP_055542.1:p.Lys1692Arg
XM_011527561.1:c.5009A>G XP_011525863.1:p.Lys1670Arg
XM_011527562.1:c.5075A>G XP_011525864.1:p.Lys1692Arg
XM_011527563.1:c.4799A>G XP_011525865.1:p.Lys1600Arg
XM_011527561.2:c.4511A>G XP_011525863.2:p.Lys1504Arg
XM_011527562.2:c.5075A>G XP_011525864.1:p.Lys1692Arg
XM_017027544.1:c.5075A>G XP_016883033.1:p.Lys1692Arg
XM_017027545.1:c.4511A>G XP_016883034.1:p.Lys1504Arg
XM_017027546.1:c.2039A>G XP_016883035.1:p.Lys680Arg
NM_014727.3:c.5075A>G MANE Select NP_055542.1:p.Lys1692Arg