Canonical Allele Identifier: CA9385694

Gene: KMT2B

Linked Data

• dbSNP Id: rs766871241
• ExAC: 19:36223924 C / T
• gnomAD v2: 19-36223924-C-T
• gnomAD v3: 19-35733023-C-T
• gnomAD v4: 19-35733023-C-T
• MyVariant Identifiers: chr19:g.36223924C>T (hg19) ; chr19:g.35733023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733023C>T , CM000681.2:g.35733023C>T	GRCh38
NC_000019.9:g.36223924C>T , CM000681.1:g.36223924C>T	GRCh37
NC_000019.8:g.40915764C>T	NCBI36
NG_052906.1:g.20005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.780C>T
ENST00000673918.2:c.6408C>T	ENSP00000501283.1:p.Asp2136=
ENST00000674114.2:c.4015C>T	ENSP00000501039.2:n.4015C>T
ENST00000684977.1:c.1692C>T	ENSP00000509384.1:p.Asp564=
ENST00000689544.1:n.1627C>T
ENST00000691421.1:c.1695C>T	ENSP00000508674.1:p.Asp565=
ENST00000691855.1:c.6016C>T
ENST00000692961.1:c.6474C>T	ENSP00000509289.1:p.Asp2158=
ENST00000693677.1:c.705-574C>T	ENSP00000509779.1:n.705-574C>T
ENST00000420124.4:c.6474C>T MANE Select	ENSP00000398837.2:p.Asp2158=
ENST00000673918.1:c.6408C>T	ENSP00000501283.1:p.Asp2136=
ENST00000674114.1:c.3796C>T
ENST00000420124.2:c.6474C>T	ENSP00000398837.1:p.Asp2158=
NM_014727.2:c.6474C>T	NP_055542.1:p.Asp2158=
XM_011527561.1:c.6408C>T	XP_011525863.1:p.Asp2136=
XM_011527562.1:c.6474C>T	XP_011525864.1:p.Asp2158=
XM_011527563.1:c.6198C>T	XP_011525865.1:p.Asp2066=
XM_011527561.2:c.5910C>T	XP_011525863.2:p.Asp1970=
XM_011527562.2:c.6474C>T	XP_011525864.1:p.Asp2158=
XM_017027544.1:c.6474C>T	XP_016883033.1:p.Asp2158=
XM_017027545.1:c.5910C>T	XP_016883034.1:p.Asp1970=
XM_017027546.1:c.3438C>T	XP_016883035.1:p.Asp1146=
NM_014727.3:c.6474C>T MANE Select	NP_055542.1:p.Asp2158=