Canonical Allele Identifier: CA405419243
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730083G>T , CM000681.2:g.35730083G>T GRCh38
NC_000019.9:g.36220984G>T , CM000681.1:g.36220984G>T GRCh37
NC_000019.8:g.40912824G>T NCBI36
NG_052906.1:g.17065G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4968G>T ENSP00000501283.1:p.Lys1656Asn
ENST00000674114.2:c.2575G>T ENSP00000501039.2:n.2575G>T
ENST00000684977.1:c.252G>T ENSP00000509384.1:p.Lys84Asn
ENST00000685168.1:c.460G>T
ENST00000689544.1:n.187G>T
ENST00000691421.1:c.255G>T ENSP00000508674.1:p.Lys85Asn
ENST00000691855.1:c.4576G>T
ENST00000692961.1:c.5034G>T ENSP00000509289.1:p.Lys1678Asn
ENST00000420124.4:c.5034G>T MANE Select ENSP00000398837.2:p.Lys1678Asn
ENST00000673918.1:c.4968G>T ENSP00000501283.1:p.Lys1656Asn
ENST00000674114.1:c.2356G>T
ENST00000420124.2:c.5034G>T ENSP00000398837.1:p.Lys1678Asn
NM_014727.2:c.5034G>T NP_055542.1:p.Lys1678Asn
XM_011527561.1:c.4968G>T XP_011525863.1:p.Lys1656Asn
XM_011527562.1:c.5034G>T XP_011525864.1:p.Lys1678Asn
XM_011527563.1:c.4758G>T XP_011525865.1:p.Lys1586Asn
XM_011527561.2:c.4470G>T XP_011525863.2:p.Lys1490Asn
XM_011527562.2:c.5034G>T XP_011525864.1:p.Lys1678Asn
XM_017027544.1:c.5034G>T XP_016883033.1:p.Lys1678Asn
XM_017027545.1:c.4470G>T XP_016883034.1:p.Lys1490Asn
XM_017027546.1:c.1998G>T XP_016883035.1:p.Lys666Asn
NM_014727.3:c.5034G>T MANE Select NP_055542.1:p.Lys1678Asn