Canonical Allele Identifier: CA405424999

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223436A>T (hg19) ; chr19:g.35732535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732535A>T , CM000681.2:g.35732535A>T	GRCh38
NC_000019.9:g.36223436A>T , CM000681.1:g.36223436A>T	GRCh37
NC_000019.8:g.40915276A>T	NCBI36
NG_052906.1:g.19517A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.292A>T
ENST00000673918.2:c.5920A>T	ENSP00000501283.1:p.Ser1974Cys
ENST00000674114.2:c.3527A>T	ENSP00000501039.2:n.3527A>T
ENST00000684977.1:c.1204A>T	ENSP00000509384.1:p.Ser402Cys
ENST00000689544.1:n.1139A>T
ENST00000691421.1:c.1207A>T	ENSP00000508674.1:p.Ser403Cys
ENST00000691855.1:c.5528A>T
ENST00000692961.1:c.5986A>T	ENSP00000509289.1:p.Ser1996Cys
ENST00000693677.1:c.704+206A>T	ENSP00000509779.1:n.704+206A>T
ENST00000420124.4:c.5986A>T MANE Select	ENSP00000398837.2:p.Ser1996Cys
ENST00000673918.1:c.5920A>T	ENSP00000501283.1:p.Ser1974Cys
ENST00000674114.1:c.3308A>T
ENST00000420124.2:c.5986A>T	ENSP00000398837.1:p.Ser1996Cys
NM_014727.2:c.5986A>T	NP_055542.1:p.Ser1996Cys
XM_011527561.1:c.5920A>T	XP_011525863.1:p.Ser1974Cys
XM_011527562.1:c.5986A>T	XP_011525864.1:p.Ser1996Cys
XM_011527563.1:c.5710A>T	XP_011525865.1:p.Ser1904Cys
XM_011527561.2:c.5422A>T	XP_011525863.2:p.Ser1808Cys
XM_011527562.2:c.5986A>T	XP_011525864.1:p.Ser1996Cys
XM_017027544.1:c.5986A>T	XP_016883033.1:p.Ser1996Cys
XM_017027545.1:c.5422A>T	XP_016883034.1:p.Ser1808Cys
XM_017027546.1:c.2950A>T	XP_016883035.1:p.Ser984Cys
NM_014727.3:c.5986A>T MANE Select	NP_055542.1:p.Ser1996Cys