Canonical Allele Identifier: CA405419362
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.5009A>T ENSP00000501283.1:p.Lys1670Met
ENST00000674114.2:c.2616A>T ENSP00000501039.2:n.2616A>T
ENST00000684977.1:c.293A>T ENSP00000509384.1:p.Lys98Met
ENST00000685168.1:c.501A>T
ENST00000689544.1:n.228A>T
ENST00000691421.1:c.296A>T ENSP00000508674.1:p.Lys99Met
ENST00000691855.1:c.4617A>T
ENST00000692961.1:c.5075A>T ENSP00000509289.1:p.Lys1692Met
ENST00000420124.4:c.5075A>T MANE Select ENSP00000398837.2:p.Lys1692Met
ENST00000673918.1:c.5009A>T ENSP00000501283.1:p.Lys1670Met
ENST00000674114.1:c.2397A>T
ENST00000420124.2:c.5075A>T ENSP00000398837.1:p.Lys1692Met
NM_014727.2:c.5075A>T NP_055542.1:p.Lys1692Met
XM_011527561.1:c.5009A>T XP_011525863.1:p.Lys1670Met
XM_011527562.1:c.5075A>T XP_011525864.1:p.Lys1692Met
XM_011527563.1:c.4799A>T XP_011525865.1:p.Lys1600Met
XM_011527561.2:c.4511A>T XP_011525863.2:p.Lys1504Met
XM_011527562.2:c.5075A>T XP_011525864.1:p.Lys1692Met
XM_017027544.1:c.5075A>T XP_016883033.1:p.Lys1692Met
XM_017027545.1:c.4511A>T XP_016883034.1:p.Lys1504Met
XM_017027546.1:c.2039A>T XP_016883035.1:p.Lys680Met
NM_014727.3:c.5075A>T MANE Select NP_055542.1:p.Lys1692Met