Canonical Allele Identifier: CA405424587

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2504872
• ClinVar RCV Id: RCV003234463
• MyVariant Identifiers: chr19:g.36223373C>T (hg19) ; chr19:g.35732472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732472C>T , CM000681.2:g.35732472C>T	GRCh38
NC_000019.9:g.36223373C>T , CM000681.1:g.36223373C>T	GRCh37
NC_000019.8:g.40915213C>T	NCBI36
NG_052906.1:g.19454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.229C>T
ENST00000673918.2:c.5857C>T	ENSP00000501283.1:p.Pro1953Ser
ENST00000674114.2:c.3464C>T	ENSP00000501039.2:n.3464C>T
ENST00000684977.1:c.1141C>T	ENSP00000509384.1:p.Pro381Ser
ENST00000689544.1:n.1076C>T
ENST00000691421.1:c.1144C>T	ENSP00000508674.1:p.Pro382Ser
ENST00000691855.1:c.5465C>T
ENST00000692961.1:c.5923C>T	ENSP00000509289.1:p.Pro1975Ser
ENST00000693677.1:c.704+143C>T	ENSP00000509779.1:n.704+143C>T
ENST00000420124.4:c.5923C>T MANE Select	ENSP00000398837.2:p.Pro1975Ser
ENST00000673918.1:c.5857C>T	ENSP00000501283.1:p.Pro1953Ser
ENST00000674114.1:c.3245C>T
ENST00000420124.2:c.5923C>T	ENSP00000398837.1:p.Pro1975Ser
NM_014727.2:c.5923C>T	NP_055542.1:p.Pro1975Ser
XM_011527561.1:c.5857C>T	XP_011525863.1:p.Pro1953Ser
XM_011527562.1:c.5923C>T	XP_011525864.1:p.Pro1975Ser
XM_011527563.1:c.5647C>T	XP_011525865.1:p.Pro1883Ser
XM_011527561.2:c.5359C>T	XP_011525863.2:p.Pro1787Ser
XM_011527562.2:c.5923C>T	XP_011525864.1:p.Pro1975Ser
XM_017027544.1:c.5923C>T	XP_016883033.1:p.Pro1975Ser
XM_017027545.1:c.5359C>T	XP_016883034.1:p.Pro1787Ser
XM_017027546.1:c.2887C>T	XP_016883035.1:p.Pro963Ser
NM_014727.3:c.5923C>T MANE Select	NP_055542.1:p.Pro1975Ser