Canonical Allele Identifier: CA405424358

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 3005442
• ClinVar RCV Id: RCV003868569
• dbSNP Id: rs1949982766
• gnomAD v3: 19-35732431-C-T
• gnomAD v4: 19-35732431-C-T
• MyVariant Identifiers: chr19:g.36223332C>T (hg19) ; chr19:g.35732431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732431C>T , CM000681.2:g.35732431C>T	GRCh38
NC_000019.9:g.36223332C>T , CM000681.1:g.36223332C>T	GRCh37
NC_000019.8:g.40915172C>T	NCBI36
NG_052906.1:g.19413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.188C>T
ENST00000673918.2:c.5816C>T	ENSP00000501283.1:p.Pro1939Leu
ENST00000674114.2:c.3423C>T	ENSP00000501039.2:n.3423C>T
ENST00000684977.1:c.1100C>T	ENSP00000509384.1:p.Pro367Leu
ENST00000689544.1:n.1035C>T
ENST00000691421.1:c.1103C>T	ENSP00000508674.1:p.Pro368Leu
ENST00000691855.1:c.5424C>T
ENST00000692961.1:c.5882C>T	ENSP00000509289.1:p.Pro1961Leu
ENST00000693677.1:c.704+102C>T	ENSP00000509779.1:n.704+102C>T
ENST00000420124.4:c.5882C>T MANE Select	ENSP00000398837.2:p.Pro1961Leu
ENST00000673918.1:c.5816C>T	ENSP00000501283.1:p.Pro1939Leu
ENST00000674114.1:c.3204C>T
ENST00000420124.2:c.5882C>T	ENSP00000398837.1:p.Pro1961Leu
NM_014727.2:c.5882C>T	NP_055542.1:p.Pro1961Leu
XM_011527561.1:c.5816C>T	XP_011525863.1:p.Pro1939Leu
XM_011527562.1:c.5882C>T	XP_011525864.1:p.Pro1961Leu
XM_011527563.1:c.5606C>T	XP_011525865.1:p.Pro1869Leu
XM_011527561.2:c.5318C>T	XP_011525863.2:p.Pro1773Leu
XM_011527562.2:c.5882C>T	XP_011525864.1:p.Pro1961Leu
XM_017027544.1:c.5882C>T	XP_016883033.1:p.Pro1961Leu
XM_017027545.1:c.5318C>T	XP_016883034.1:p.Pro1773Leu
XM_017027546.1:c.2846C>T	XP_016883035.1:p.Pro949Leu
NM_014727.3:c.5882C>T MANE Select	NP_055542.1:p.Pro1961Leu