Canonical Allele Identifier: CA405427933

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223796T>A (hg19) ; chr19:g.35732895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732895T>A , CM000681.2:g.35732895T>A	GRCh38
NC_000019.9:g.36223796T>A , CM000681.1:g.36223796T>A	GRCh37
NC_000019.8:g.40915636T>A	NCBI36
NG_052906.1:g.19877T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.652T>A
ENST00000673918.2:c.6280T>A	ENSP00000501283.1:p.Phe2094Ile
ENST00000674114.2:c.3887T>A	ENSP00000501039.2:n.3887T>A
ENST00000684977.1:c.1564T>A	ENSP00000509384.1:p.Phe522Ile
ENST00000689544.1:n.1499T>A
ENST00000691421.1:c.1567T>A	ENSP00000508674.1:p.Phe523Ile
ENST00000691855.1:c.5888T>A
ENST00000692961.1:c.6346T>A	ENSP00000509289.1:p.Phe2116Ile
ENST00000693677.1:c.704+566T>A	ENSP00000509779.1:n.704+566T>A
ENST00000420124.4:c.6346T>A MANE Select	ENSP00000398837.2:p.Phe2116Ile
ENST00000673918.1:c.6280T>A	ENSP00000501283.1:p.Phe2094Ile
ENST00000674114.1:c.3668T>A
ENST00000420124.2:c.6346T>A	ENSP00000398837.1:p.Phe2116Ile
NM_014727.2:c.6346T>A	NP_055542.1:p.Phe2116Ile
XM_011527561.1:c.6280T>A	XP_011525863.1:p.Phe2094Ile
XM_011527562.1:c.6346T>A	XP_011525864.1:p.Phe2116Ile
XM_011527563.1:c.6070T>A	XP_011525865.1:p.Phe2024Ile
XM_011527561.2:c.5782T>A	XP_011525863.2:p.Phe1928Ile
XM_011527562.2:c.6346T>A	XP_011525864.1:p.Phe2116Ile
XM_017027544.1:c.6346T>A	XP_016883033.1:p.Phe2116Ile
XM_017027545.1:c.5782T>A	XP_016883034.1:p.Phe1928Ile
XM_017027546.1:c.3310T>A	XP_016883035.1:p.Phe1104Ile
NM_014727.3:c.6346T>A MANE Select	NP_055542.1:p.Phe2116Ile