Canonical Allele Identifier: CA405429703

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224100A>T (hg19) ; chr19:g.35733199A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733199A>T , CM000681.2:g.35733199A>T	GRCh38
NC_000019.9:g.36224100A>T , CM000681.1:g.36224100A>T	GRCh37
NC_000019.8:g.40915940A>T	NCBI36
NG_052906.1:g.20181A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.956A>T
ENST00000673918.2:c.6584A>T	ENSP00000501283.1:p.Gln2195Leu
ENST00000674114.2:c.4191A>T	ENSP00000501039.2:n.4191A>T
ENST00000684977.1:c.1868A>T	ENSP00000509384.1:p.Gln623Leu
ENST00000689544.1:n.1803A>T
ENST00000691421.1:c.1871A>T	ENSP00000508674.1:p.Gln624Leu
ENST00000691855.1:c.6192A>T
ENST00000692961.1:c.6650A>T	ENSP00000509289.1:p.Gln2217Leu
ENST00000693677.1:c.705-398A>T	ENSP00000509779.1:n.705-398A>T
ENST00000420124.4:c.6650A>T MANE Select	ENSP00000398837.2:p.Gln2217Leu
ENST00000673918.1:c.6584A>T	ENSP00000501283.1:p.Gln2195Leu
ENST00000674114.1:c.3972A>T
ENST00000420124.2:c.6650A>T	ENSP00000398837.1:p.Gln2217Leu
NM_014727.2:c.6650A>T	NP_055542.1:p.Gln2217Leu
XM_011527561.1:c.6584A>T	XP_011525863.1:p.Gln2195Leu
XM_011527562.1:c.6650A>T	XP_011525864.1:p.Gln2217Leu
XM_011527563.1:c.6374A>T	XP_011525865.1:p.Gln2125Leu
XM_011527561.2:c.6086A>T	XP_011525863.2:p.Gln2029Leu
XM_011527562.2:c.6650A>T	XP_011525864.1:p.Gln2217Leu
XM_017027544.1:c.6650A>T	XP_016883033.1:p.Gln2217Leu
XM_017027545.1:c.6086A>T	XP_016883034.1:p.Gln2029Leu
XM_017027546.1:c.3614A>T	XP_016883035.1:p.Gln1205Leu
NM_014727.3:c.6650A>T MANE Select	NP_055542.1:p.Gln2217Leu