Canonical Allele Identifier: CA507072700
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36221020T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730119T>C , CM000681.2:g.35730119T>C GRCh38
NC_000019.9:g.36221020T>C , CM000681.1:g.36221020T>C GRCh37
NC_000019.8:g.40912860T>C NCBI36
NG_052906.1:g.17101T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.5004T>C ENSP00000501283.1:p.Asp1668=
ENST00000674114.2:c.2611T>C ENSP00000501039.2:n.2611T>C
ENST00000684977.1:c.288T>C ENSP00000509384.1:p.Asp96=
ENST00000685168.1:c.496T>C
ENST00000689544.1:n.223T>C
ENST00000691421.1:c.291T>C ENSP00000508674.1:p.Asp97=
ENST00000691855.1:c.4612T>C
ENST00000692961.1:c.5070T>C ENSP00000509289.1:p.Asp1690=
ENST00000420124.4:c.5070T>C MANE Select ENSP00000398837.2:p.Asp1690=
ENST00000673918.1:c.5004T>C ENSP00000501283.1:p.Asp1668=
ENST00000674114.1:c.2392T>C
ENST00000420124.2:c.5070T>C ENSP00000398837.1:p.Asp1690=
NM_014727.2:c.5070T>C NP_055542.1:p.Asp1690=
XM_011527561.1:c.5004T>C XP_011525863.1:p.Asp1668=
XM_011527562.1:c.5070T>C XP_011525864.1:p.Asp1690=
XM_011527563.1:c.4794T>C XP_011525865.1:p.Asp1598=
XM_011527561.2:c.4506T>C XP_011525863.2:p.Asp1502=
XM_011527562.2:c.5070T>C XP_011525864.1:p.Asp1690=
XM_017027544.1:c.5070T>C XP_016883033.1:p.Asp1690=
XM_017027545.1:c.4506T>C XP_016883034.1:p.Asp1502=
XM_017027546.1:c.2034T>C XP_016883035.1:p.Asp678=
NM_014727.3:c.5070T>C MANE Select NP_055542.1:p.Asp1690=