Canonical Allele Identifier: CA9385613

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 3020979
• ClinVar RCV Id: RCV003880138
• dbSNP Id: rs755243130
• ExAC: 19:36223592 G / T
• gnomAD v2: 19-36223592-G-T
• gnomAD v3: 19-35732691-G-T
• gnomAD v4: 19-35732691-G-T
• MyVariant Identifiers: chr19:g.36223592G>T (hg19) ; chr19:g.35732691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732691G>T , CM000681.2:g.35732691G>T	GRCh38
NC_000019.9:g.36223592G>T , CM000681.1:g.36223592G>T	GRCh37
NC_000019.8:g.40915432G>T	NCBI36
NG_052906.1:g.19673G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.448G>T
ENST00000673918.2:c.6076G>T	ENSP00000501283.1:p.Ala2026Ser
ENST00000674114.2:c.3683G>T	ENSP00000501039.2:n.3683G>T
ENST00000684977.1:c.1360G>T	ENSP00000509384.1:p.Ala454Ser
ENST00000689544.1:n.1295G>T
ENST00000691421.1:c.1363G>T	ENSP00000508674.1:p.Ala455Ser
ENST00000691855.1:c.5684G>T
ENST00000692961.1:c.6142G>T	ENSP00000509289.1:p.Ala2048Ser
ENST00000693677.1:c.704+362G>T	ENSP00000509779.1:n.704+362G>T
ENST00000420124.4:c.6142G>T MANE Select	ENSP00000398837.2:p.Ala2048Ser
ENST00000673918.1:c.6076G>T	ENSP00000501283.1:p.Ala2026Ser
ENST00000674114.1:c.3464G>T
ENST00000420124.2:c.6142G>T	ENSP00000398837.1:p.Ala2048Ser
NM_014727.2:c.6142G>T	NP_055542.1:p.Ala2048Ser
XM_011527561.1:c.6076G>T	XP_011525863.1:p.Ala2026Ser
XM_011527562.1:c.6142G>T	XP_011525864.1:p.Ala2048Ser
XM_011527563.1:c.5866G>T	XP_011525865.1:p.Ala1956Ser
XM_011527561.2:c.5578G>T	XP_011525863.2:p.Ala1860Ser
XM_011527562.2:c.6142G>T	XP_011525864.1:p.Ala2048Ser
XM_017027544.1:c.6142G>T	XP_016883033.1:p.Ala2048Ser
XM_017027545.1:c.5578G>T	XP_016883034.1:p.Ala1860Ser
XM_017027546.1:c.3106G>T	XP_016883035.1:p.Ala1036Ser
NM_014727.3:c.6142G>T MANE Select	NP_055542.1:p.Ala2048Ser