Canonical Allele Identifier: CA405418971

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220939C>G (hg19) ; chr19:g.35730038C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730038C>G , CM000681.2:g.35730038C>G	GRCh38
NC_000019.9:g.36220939C>G , CM000681.1:g.36220939C>G	GRCh37
NC_000019.8:g.40912779C>G	NCBI36
NG_052906.1:g.17020C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4923C>G	ENSP00000501283.1:p.His1641Gln
ENST00000674114.2:c.2530C>G	ENSP00000501039.2:n.2530C>G
ENST00000684977.1:c.207C>G	ENSP00000509384.1:p.His69Gln
ENST00000685168.1:c.415C>G
ENST00000689544.1:n.142C>G
ENST00000691421.1:c.210C>G	ENSP00000508674.1:p.His70Gln
ENST00000691855.1:c.4531C>G
ENST00000692961.1:c.4989C>G	ENSP00000509289.1:p.His1663Gln
ENST00000420124.4:c.4989C>G MANE Select	ENSP00000398837.2:p.His1663Gln
ENST00000673918.1:c.4923C>G	ENSP00000501283.1:p.His1641Gln
ENST00000674114.1:c.2311C>G
ENST00000420124.2:c.4989C>G	ENSP00000398837.1:p.His1663Gln
NM_014727.2:c.4989C>G	NP_055542.1:p.His1663Gln
XM_011527561.1:c.4923C>G	XP_011525863.1:p.His1641Gln
XM_011527562.1:c.4989C>G	XP_011525864.1:p.His1663Gln
XM_011527563.1:c.4713C>G	XP_011525865.1:p.His1571Gln
XM_011527561.2:c.4425C>G	XP_011525863.2:p.His1475Gln
XM_011527562.2:c.4989C>G	XP_011525864.1:p.His1663Gln
XM_017027544.1:c.4989C>G	XP_016883033.1:p.His1663Gln
XM_017027545.1:c.4425C>G	XP_016883034.1:p.His1475Gln
XM_017027546.1:c.1953C>G	XP_016883035.1:p.His651Gln
NM_014727.3:c.4989C>G MANE Select	NP_055542.1:p.His1663Gln