Canonical Allele Identifier: CA9385730

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1515230
• ClinVar RCV Id: RCV002020939 ; RCV002550443
• dbSNP Id: rs373926591
• ExAC: 19:36224078 C / T
• gnomAD v2: 19-36224078-C-T
• gnomAD v3: 19-35733177-C-T
• gnomAD v4: 19-35733177-C-T
• MyVariant Identifiers: chr19:g.36224078C>T (hg19) ; chr19:g.35733177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733177C>T , CM000681.2:g.35733177C>T	GRCh38
NC_000019.9:g.36224078C>T , CM000681.1:g.36224078C>T	GRCh37
NC_000019.8:g.40915918C>T	NCBI36
NG_052906.1:g.20159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.934C>T
ENST00000673918.2:c.6562C>T	ENSP00000501283.1:p.Pro2188Ser
ENST00000674114.2:c.4169C>T	ENSP00000501039.2:n.4169C>T
ENST00000684977.1:c.1846C>T	ENSP00000509384.1:p.Pro616Ser
ENST00000689544.1:n.1781C>T
ENST00000691421.1:c.1849C>T	ENSP00000508674.1:p.Pro617Ser
ENST00000691855.1:c.6170C>T
ENST00000692961.1:c.6628C>T	ENSP00000509289.1:p.Pro2210Ser
ENST00000693677.1:c.705-420C>T	ENSP00000509779.1:n.705-420C>T
ENST00000420124.4:c.6628C>T MANE Select	ENSP00000398837.2:p.Pro2210Ser
ENST00000673918.1:c.6562C>T	ENSP00000501283.1:p.Pro2188Ser
ENST00000674114.1:c.3950C>T
ENST00000420124.2:c.6628C>T	ENSP00000398837.1:p.Pro2210Ser
NM_014727.2:c.6628C>T	NP_055542.1:p.Pro2210Ser
XM_011527561.1:c.6562C>T	XP_011525863.1:p.Pro2188Ser
XM_011527562.1:c.6628C>T	XP_011525864.1:p.Pro2210Ser
XM_011527563.1:c.6352C>T	XP_011525865.1:p.Pro2118Ser
XM_011527561.2:c.6064C>T	XP_011525863.2:p.Pro2022Ser
XM_011527562.2:c.6628C>T	XP_011525864.1:p.Pro2210Ser
XM_017027544.1:c.6628C>T	XP_016883033.1:p.Pro2210Ser
XM_017027545.1:c.6064C>T	XP_016883034.1:p.Pro2022Ser
XM_017027546.1:c.3592C>T	XP_016883035.1:p.Pro1198Ser
NM_014727.3:c.6628C>T MANE Select	NP_055542.1:p.Pro2210Ser