Canonical Allele Identifier: CA405418966

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220938A>T (hg19) ; chr19:g.35730037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730037A>T , CM000681.2:g.35730037A>T	GRCh38
NC_000019.9:g.36220938A>T , CM000681.1:g.36220938A>T	GRCh37
NC_000019.8:g.40912778A>T	NCBI36
NG_052906.1:g.17019A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4922A>T	ENSP00000501283.1:p.His1641Leu
ENST00000674114.2:c.2529A>T	ENSP00000501039.2:n.2529A>T
ENST00000684977.1:c.206A>T	ENSP00000509384.1:p.His69Leu
ENST00000685168.1:c.414A>T
ENST00000689544.1:n.141A>T
ENST00000691421.1:c.209A>T	ENSP00000508674.1:p.His70Leu
ENST00000691855.1:c.4530A>T
ENST00000692961.1:c.4988A>T	ENSP00000509289.1:p.His1663Leu
ENST00000420124.4:c.4988A>T MANE Select	ENSP00000398837.2:p.His1663Leu
ENST00000673918.1:c.4922A>T	ENSP00000501283.1:p.His1641Leu
ENST00000674114.1:c.2310A>T
ENST00000420124.2:c.4988A>T	ENSP00000398837.1:p.His1663Leu
NM_014727.2:c.4988A>T	NP_055542.1:p.His1663Leu
XM_011527561.1:c.4922A>T	XP_011525863.1:p.His1641Leu
XM_011527562.1:c.4988A>T	XP_011525864.1:p.His1663Leu
XM_011527563.1:c.4712A>T	XP_011525865.1:p.His1571Leu
XM_011527561.2:c.4424A>T	XP_011525863.2:p.His1475Leu
XM_011527562.2:c.4988A>T	XP_011525864.1:p.His1663Leu
XM_017027544.1:c.4988A>T	XP_016883033.1:p.His1663Leu
XM_017027545.1:c.4424A>T	XP_016883034.1:p.His1475Leu
XM_017027546.1:c.1952A>T	XP_016883035.1:p.His651Leu
NM_014727.3:c.4988A>T MANE Select	NP_055542.1:p.His1663Leu