Canonical Allele Identifier: CA405429474

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224052T>A (hg19) ; chr19:g.35733151T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733151T>A , CM000681.2:g.35733151T>A	GRCh38
NC_000019.9:g.36224052T>A , CM000681.1:g.36224052T>A	GRCh37
NC_000019.8:g.40915892T>A	NCBI36
NG_052906.1:g.20133T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.908T>A
ENST00000673918.2:c.6536T>A	ENSP00000501283.1:p.Phe2179Tyr
ENST00000674114.2:c.4143T>A	ENSP00000501039.2:n.4143T>A
ENST00000684977.1:c.1820T>A	ENSP00000509384.1:p.Phe607Tyr
ENST00000689544.1:n.1755T>A
ENST00000691421.1:c.1823T>A	ENSP00000508674.1:p.Phe608Tyr
ENST00000691855.1:c.6144T>A
ENST00000692961.1:c.6602T>A	ENSP00000509289.1:p.Phe2201Tyr
ENST00000693677.1:c.705-446T>A	ENSP00000509779.1:n.705-446T>A
ENST00000420124.4:c.6602T>A MANE Select	ENSP00000398837.2:p.Phe2201Tyr
ENST00000673918.1:c.6536T>A	ENSP00000501283.1:p.Phe2179Tyr
ENST00000674114.1:c.3924T>A
ENST00000420124.2:c.6602T>A	ENSP00000398837.1:p.Phe2201Tyr
NM_014727.2:c.6602T>A	NP_055542.1:p.Phe2201Tyr
XM_011527561.1:c.6536T>A	XP_011525863.1:p.Phe2179Tyr
XM_011527562.1:c.6602T>A	XP_011525864.1:p.Phe2201Tyr
XM_011527563.1:c.6326T>A	XP_011525865.1:p.Phe2109Tyr
XM_011527561.2:c.6038T>A	XP_011525863.2:p.Phe2013Tyr
XM_011527562.2:c.6602T>A	XP_011525864.1:p.Phe2201Tyr
XM_017027544.1:c.6602T>A	XP_016883033.1:p.Phe2201Tyr
XM_017027545.1:c.6038T>A	XP_016883034.1:p.Phe2013Tyr
XM_017027546.1:c.3566T>A	XP_016883035.1:p.Phe1189Tyr
NM_014727.3:c.6602T>A MANE Select	NP_055542.1:p.Phe2201Tyr