Canonical Allele Identifier: CA507072683
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36220978T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730077T>C , CM000681.2:g.35730077T>C GRCh38
NC_000019.9:g.36220978T>C , CM000681.1:g.36220978T>C GRCh37
NC_000019.8:g.40912818T>C NCBI36
NG_052906.1:g.17059T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4962T>C ENSP00000501283.1:p.Asp1654=
ENST00000674114.2:c.2569T>C ENSP00000501039.2:n.2569T>C
ENST00000684977.1:c.246T>C ENSP00000509384.1:p.Asp82=
ENST00000685168.1:c.454T>C
ENST00000689544.1:n.181T>C
ENST00000691421.1:c.249T>C ENSP00000508674.1:p.Asp83=
ENST00000691855.1:c.4570T>C
ENST00000692961.1:c.5028T>C ENSP00000509289.1:p.Asp1676=
ENST00000420124.4:c.5028T>C MANE Select ENSP00000398837.2:p.Asp1676=
ENST00000673918.1:c.4962T>C ENSP00000501283.1:p.Asp1654=
ENST00000674114.1:c.2350T>C
ENST00000420124.2:c.5028T>C ENSP00000398837.1:p.Asp1676=
NM_014727.2:c.5028T>C NP_055542.1:p.Asp1676=
XM_011527561.1:c.4962T>C XP_011525863.1:p.Asp1654=
XM_011527562.1:c.5028T>C XP_011525864.1:p.Asp1676=
XM_011527563.1:c.4752T>C XP_011525865.1:p.Asp1584=
XM_011527561.2:c.4464T>C XP_011525863.2:p.Asp1488=
XM_011527562.2:c.5028T>C XP_011525864.1:p.Asp1676=
XM_017027544.1:c.5028T>C XP_016883033.1:p.Asp1676=
XM_017027545.1:c.4464T>C XP_016883034.1:p.Asp1488=
XM_017027546.1:c.1992T>C XP_016883035.1:p.Asp664=
NM_014727.3:c.5028T>C MANE Select NP_055542.1:p.Asp1676=