Canonical Allele Identifier: CA405418973

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220940T>A (hg19) ; chr19:g.35730039T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730039T>A , CM000681.2:g.35730039T>A	GRCh38
NC_000019.9:g.36220940T>A , CM000681.1:g.36220940T>A	GRCh37
NC_000019.8:g.40912780T>A	NCBI36
NG_052906.1:g.17021T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4924T>A	ENSP00000501283.1:p.Phe1642Ile
ENST00000674114.2:c.2531T>A	ENSP00000501039.2:n.2531T>A
ENST00000684977.1:c.208T>A	ENSP00000509384.1:p.Phe70Ile
ENST00000685168.1:c.416T>A
ENST00000689544.1:n.143T>A
ENST00000691421.1:c.211T>A	ENSP00000508674.1:p.Phe71Ile
ENST00000691855.1:c.4532T>A
ENST00000692961.1:c.4990T>A	ENSP00000509289.1:p.Phe1664Ile
ENST00000420124.4:c.4990T>A MANE Select	ENSP00000398837.2:p.Phe1664Ile
ENST00000673918.1:c.4924T>A	ENSP00000501283.1:p.Phe1642Ile
ENST00000674114.1:c.2312T>A
ENST00000420124.2:c.4990T>A	ENSP00000398837.1:p.Phe1664Ile
NM_014727.2:c.4990T>A	NP_055542.1:p.Phe1664Ile
XM_011527561.1:c.4924T>A	XP_011525863.1:p.Phe1642Ile
XM_011527562.1:c.4990T>A	XP_011525864.1:p.Phe1664Ile
XM_011527563.1:c.4714T>A	XP_011525865.1:p.Phe1572Ile
XM_011527561.2:c.4426T>A	XP_011525863.2:p.Phe1476Ile
XM_011527562.2:c.4990T>A	XP_011525864.1:p.Phe1664Ile
XM_017027544.1:c.4990T>A	XP_016883033.1:p.Phe1664Ile
XM_017027545.1:c.4426T>A	XP_016883034.1:p.Phe1476Ile
XM_017027546.1:c.1954T>A	XP_016883035.1:p.Phe652Ile
NM_014727.3:c.4990T>A MANE Select	NP_055542.1:p.Phe1664Ile