Canonical Allele Identifier: CA9385565

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2992217
• ClinVar RCV Id: RCV003855344
• dbSNP Id: rs767943155
• ExAC: 19:36223355 C / T
• gnomAD v2: 19-36223355-C-T
• gnomAD v4: 19-35732454-C-T
• MyVariant Identifiers: chr19:g.36223355C>T (hg19) ; chr19:g.35732454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732454C>T , CM000681.2:g.35732454C>T	GRCh38
NC_000019.9:g.36223355C>T , CM000681.1:g.36223355C>T	GRCh37
NC_000019.8:g.40915195C>T	NCBI36
NG_052906.1:g.19436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.211C>T
ENST00000673918.2:c.5839C>T	ENSP00000501283.1:p.Pro1947Ser
ENST00000674114.2:c.3446C>T	ENSP00000501039.2:n.3446C>T
ENST00000684977.1:c.1123C>T	ENSP00000509384.1:p.Pro375Ser
ENST00000689544.1:n.1058C>T
ENST00000691421.1:c.1126C>T	ENSP00000508674.1:p.Pro376Ser
ENST00000691855.1:c.5447C>T
ENST00000692961.1:c.5905C>T	ENSP00000509289.1:p.Pro1969Ser
ENST00000693677.1:c.704+125C>T	ENSP00000509779.1:n.704+125C>T
ENST00000420124.4:c.5905C>T MANE Select	ENSP00000398837.2:p.Pro1969Ser
ENST00000673918.1:c.5839C>T	ENSP00000501283.1:p.Pro1947Ser
ENST00000674114.1:c.3227C>T
ENST00000420124.2:c.5905C>T	ENSP00000398837.1:p.Pro1969Ser
NM_014727.2:c.5905C>T	NP_055542.1:p.Pro1969Ser
XM_011527561.1:c.5839C>T	XP_011525863.1:p.Pro1947Ser
XM_011527562.1:c.5905C>T	XP_011525864.1:p.Pro1969Ser
XM_011527563.1:c.5629C>T	XP_011525865.1:p.Pro1877Ser
XM_011527561.2:c.5341C>T	XP_011525863.2:p.Pro1781Ser
XM_011527562.2:c.5905C>T	XP_011525864.1:p.Pro1969Ser
XM_017027544.1:c.5905C>T	XP_016883033.1:p.Pro1969Ser
XM_017027545.1:c.5341C>T	XP_016883034.1:p.Pro1781Ser
XM_017027546.1:c.2869C>T	XP_016883035.1:p.Pro957Ser
NM_014727.3:c.5905C>T MANE Select	NP_055542.1:p.Pro1969Ser