Canonical Allele Identifier: CA405428393

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223868C>A (hg19) ; chr19:g.35732967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732967C>A , CM000681.2:g.35732967C>A	GRCh38
NC_000019.9:g.36223868C>A , CM000681.1:g.36223868C>A	GRCh37
NC_000019.8:g.40915708C>A	NCBI36
NG_052906.1:g.19949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.724C>A
ENST00000673918.2:c.6352C>A	ENSP00000501283.1:p.Pro2118Thr
ENST00000674114.2:c.3959C>A	ENSP00000501039.2:n.3959C>A
ENST00000684977.1:c.1636C>A	ENSP00000509384.1:p.Pro546Thr
ENST00000689544.1:n.1571C>A
ENST00000691421.1:c.1639C>A	ENSP00000508674.1:p.Pro547Thr
ENST00000691855.1:c.5960C>A
ENST00000692961.1:c.6418C>A	ENSP00000509289.1:p.Pro2140Thr
ENST00000693677.1:c.705-630C>A	ENSP00000509779.1:n.705-630C>A
ENST00000420124.4:c.6418C>A MANE Select	ENSP00000398837.2:p.Pro2140Thr
ENST00000673918.1:c.6352C>A	ENSP00000501283.1:p.Pro2118Thr
ENST00000674114.1:c.3740C>A
ENST00000420124.2:c.6418C>A	ENSP00000398837.1:p.Pro2140Thr
NM_014727.2:c.6418C>A	NP_055542.1:p.Pro2140Thr
XM_011527561.1:c.6352C>A	XP_011525863.1:p.Pro2118Thr
XM_011527562.1:c.6418C>A	XP_011525864.1:p.Pro2140Thr
XM_011527563.1:c.6142C>A	XP_011525865.1:p.Pro2048Thr
XM_011527561.2:c.5854C>A	XP_011525863.2:p.Pro1952Thr
XM_011527562.2:c.6418C>A	XP_011525864.1:p.Pro2140Thr
XM_017027544.1:c.6418C>A	XP_016883033.1:p.Pro2140Thr
XM_017027545.1:c.5854C>A	XP_016883034.1:p.Pro1952Thr
XM_017027546.1:c.3382C>A	XP_016883035.1:p.Pro1128Thr
NM_014727.3:c.6418C>A MANE Select	NP_055542.1:p.Pro2140Thr