Canonical Allele Identifier: CA405428547

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732995-C-T
• COSMIC: COSM4503618
• MyVariant Identifiers: chr19:g.36223896C>T (hg19) ; chr19:g.35732995C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732995C>T , CM000681.2:g.35732995C>T	GRCh38
NC_000019.9:g.36223896C>T , CM000681.1:g.36223896C>T	GRCh37
NC_000019.8:g.40915736C>T	NCBI36
NG_052906.1:g.19977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.752C>T
ENST00000673918.2:c.6380C>T	ENSP00000501283.1:p.Ser2127Phe
ENST00000674114.2:c.3987C>T	ENSP00000501039.2:n.3987C>T
ENST00000684977.1:c.1664C>T	ENSP00000509384.1:p.Ser555Phe
ENST00000689544.1:n.1599C>T
ENST00000691421.1:c.1667C>T	ENSP00000508674.1:p.Ser556Phe
ENST00000691855.1:c.5988C>T
ENST00000692961.1:c.6446C>T	ENSP00000509289.1:p.Ser2149Phe
ENST00000693677.1:c.705-602C>T	ENSP00000509779.1:n.705-602C>T
ENST00000420124.4:c.6446C>T MANE Select	ENSP00000398837.2:p.Ser2149Phe
ENST00000673918.1:c.6380C>T	ENSP00000501283.1:p.Ser2127Phe
ENST00000674114.1:c.3768C>T
ENST00000420124.2:c.6446C>T	ENSP00000398837.1:p.Ser2149Phe
NM_014727.2:c.6446C>T	NP_055542.1:p.Ser2149Phe
XM_011527561.1:c.6380C>T	XP_011525863.1:p.Ser2127Phe
XM_011527562.1:c.6446C>T	XP_011525864.1:p.Ser2149Phe
XM_011527563.1:c.6170C>T	XP_011525865.1:p.Ser2057Phe
XM_011527561.2:c.5882C>T	XP_011525863.2:p.Ser1961Phe
XM_011527562.2:c.6446C>T	XP_011525864.1:p.Ser2149Phe
XM_017027544.1:c.6446C>T	XP_016883033.1:p.Ser2149Phe
XM_017027545.1:c.5882C>T	XP_016883034.1:p.Ser1961Phe
XM_017027546.1:c.3410C>T	XP_016883035.1:p.Ser1137Phe
NM_014727.3:c.6446C>T MANE Select	NP_055542.1:p.Ser2149Phe