Canonical Allele Identifier: CA405428529

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732992-C-A
• MyVariant Identifiers: chr19:g.36223893C>A (hg19) ; chr19:g.35732992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732992C>A , CM000681.2:g.35732992C>A	GRCh38
NC_000019.9:g.36223893C>A , CM000681.1:g.36223893C>A	GRCh37
NC_000019.8:g.40915733C>A	NCBI36
NG_052906.1:g.19974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.749C>A
ENST00000673918.2:c.6377C>A	ENSP00000501283.1:p.Pro2126His
ENST00000674114.2:c.3984C>A	ENSP00000501039.2:n.3984C>A
ENST00000684977.1:c.1661C>A	ENSP00000509384.1:p.Pro554His
ENST00000689544.1:n.1596C>A
ENST00000691421.1:c.1664C>A	ENSP00000508674.1:p.Pro555His
ENST00000691855.1:c.5985C>A
ENST00000692961.1:c.6443C>A	ENSP00000509289.1:p.Pro2148His
ENST00000693677.1:c.705-605C>A	ENSP00000509779.1:n.705-605C>A
ENST00000420124.4:c.6443C>A MANE Select	ENSP00000398837.2:p.Pro2148His
ENST00000673918.1:c.6377C>A	ENSP00000501283.1:p.Pro2126His
ENST00000674114.1:c.3765C>A
ENST00000420124.2:c.6443C>A	ENSP00000398837.1:p.Pro2148His
NM_014727.2:c.6443C>A	NP_055542.1:p.Pro2148His
XM_011527561.1:c.6377C>A	XP_011525863.1:p.Pro2126His
XM_011527562.1:c.6443C>A	XP_011525864.1:p.Pro2148His
XM_011527563.1:c.6167C>A	XP_011525865.1:p.Pro2056His
XM_011527561.2:c.5879C>A	XP_011525863.2:p.Pro1960His
XM_011527562.2:c.6443C>A	XP_011525864.1:p.Pro2148His
XM_017027544.1:c.6443C>A	XP_016883033.1:p.Pro2148His
XM_017027545.1:c.5879C>A	XP_016883034.1:p.Pro1960His
XM_017027546.1:c.3407C>A	XP_016883035.1:p.Pro1136His
NM_014727.3:c.6443C>A MANE Select	NP_055542.1:p.Pro2148His