Canonical Allele Identifier: CA405418927
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730031A>G , CM000681.2:g.35730031A>G GRCh38
NC_000019.9:g.36220932A>G , CM000681.1:g.36220932A>G GRCh37
NC_000019.8:g.40912772A>G NCBI36
NG_052906.1:g.17013A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4916A>G ENSP00000501283.1:p.Asn1639Ser
ENST00000674114.2:c.2523A>G ENSP00000501039.2:n.2523A>G
ENST00000684977.1:c.200A>G ENSP00000509384.1:p.Asn67Ser
ENST00000685168.1:c.408A>G
ENST00000689544.1:n.135A>G
ENST00000691421.1:c.203A>G ENSP00000508674.1:p.Asn68Ser
ENST00000691855.1:c.4524A>G
ENST00000692961.1:c.4982A>G ENSP00000509289.1:p.Asn1661Ser
ENST00000420124.4:c.4982A>G MANE Select ENSP00000398837.2:p.Asn1661Ser
ENST00000673918.1:c.4916A>G ENSP00000501283.1:p.Asn1639Ser
ENST00000674114.1:c.2304A>G
ENST00000420124.2:c.4982A>G ENSP00000398837.1:p.Asn1661Ser
NM_014727.2:c.4982A>G NP_055542.1:p.Asn1661Ser
XM_011527561.1:c.4916A>G XP_011525863.1:p.Asn1639Ser
XM_011527562.1:c.4982A>G XP_011525864.1:p.Asn1661Ser
XM_011527563.1:c.4706A>G XP_011525865.1:p.Asn1569Ser
XM_011527561.2:c.4418A>G XP_011525863.2:p.Asn1473Ser
XM_011527562.2:c.4982A>G XP_011525864.1:p.Asn1661Ser
XM_017027544.1:c.4982A>G XP_016883033.1:p.Asn1661Ser
XM_017027545.1:c.4418A>G XP_016883034.1:p.Asn1473Ser
XM_017027546.1:c.1946A>G XP_016883035.1:p.Asn649Ser
NM_014727.3:c.4982A>G MANE Select NP_055542.1:p.Asn1661Ser