Canonical Allele Identifier: CA9385735

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1989766
• ClinVar RCV Id: RCV002800543
• dbSNP Id: rs753181053
• ExAC: 19:36224116 C / T
• gnomAD v2: 19-36224116-C-T
• gnomAD v3: 19-35733215-C-T
• gnomAD v4: 19-35733215-C-T
• MyVariant Identifiers: chr19:g.36224116C>T (hg19) ; chr19:g.35733215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733215C>T , CM000681.2:g.35733215C>T	GRCh38
NC_000019.9:g.36224116C>T , CM000681.1:g.36224116C>T	GRCh37
NC_000019.8:g.40915956C>T	NCBI36
NG_052906.1:g.20197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.972C>T
ENST00000673918.2:c.6600C>T	ENSP00000501283.1:p.Pro2200=
ENST00000674114.2:c.4207C>T	ENSP00000501039.2:n.4207C>T
ENST00000684977.1:c.1884C>T	ENSP00000509384.1:p.Pro628=
ENST00000689544.1:n.1819C>T
ENST00000691421.1:c.1887C>T	ENSP00000508674.1:p.Pro629=
ENST00000691855.1:c.6208C>T
ENST00000692961.1:c.6666C>T	ENSP00000509289.1:p.Pro2222=
ENST00000693677.1:c.705-382C>T	ENSP00000509779.1:n.705-382C>T
ENST00000420124.4:c.6666C>T MANE Select	ENSP00000398837.2:p.Pro2222=
ENST00000673918.1:c.6600C>T	ENSP00000501283.1:p.Pro2200=
ENST00000674114.1:c.3988C>T
ENST00000420124.2:c.6666C>T	ENSP00000398837.1:p.Pro2222=
NM_014727.2:c.6666C>T	NP_055542.1:p.Pro2222=
XM_011527561.1:c.6600C>T	XP_011525863.1:p.Pro2200=
XM_011527562.1:c.6666C>T	XP_011525864.1:p.Pro2222=
XM_011527563.1:c.6390C>T	XP_011525865.1:p.Pro2130=
XM_011527561.2:c.6102C>T	XP_011525863.2:p.Pro2034=
XM_011527562.2:c.6666C>T	XP_011525864.1:p.Pro2222=
XM_017027544.1:c.6666C>T	XP_016883033.1:p.Pro2222=
XM_017027545.1:c.6102C>T	XP_016883034.1:p.Pro2034=
XM_017027546.1:c.3630C>T	XP_016883035.1:p.Pro1210=
NM_014727.3:c.6666C>T MANE Select	NP_055542.1:p.Pro2222=