Canonical Allele Identifier: CA405427239

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223692A>T (hg19) ; chr19:g.35732791A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732791A>T , CM000681.2:g.35732791A>T	GRCh38
NC_000019.9:g.36223692A>T , CM000681.1:g.36223692A>T	GRCh37
NC_000019.8:g.40915532A>T	NCBI36
NG_052906.1:g.19773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.548A>T
ENST00000673918.2:c.6176A>T	ENSP00000501283.1:p.Gln2059Leu
ENST00000674114.2:c.3783A>T	ENSP00000501039.2:n.3783A>T
ENST00000684977.1:c.1460A>T	ENSP00000509384.1:p.Gln487Leu
ENST00000689544.1:n.1395A>T
ENST00000691421.1:c.1463A>T	ENSP00000508674.1:p.Gln488Leu
ENST00000691855.1:c.5784A>T
ENST00000692961.1:c.6242A>T	ENSP00000509289.1:p.Gln2081Leu
ENST00000693677.1:c.704+462A>T	ENSP00000509779.1:n.704+462A>T
ENST00000420124.4:c.6242A>T MANE Select	ENSP00000398837.2:p.Gln2081Leu
ENST00000673918.1:c.6176A>T	ENSP00000501283.1:p.Gln2059Leu
ENST00000674114.1:c.3564A>T
ENST00000420124.2:c.6242A>T	ENSP00000398837.1:p.Gln2081Leu
NM_014727.2:c.6242A>T	NP_055542.1:p.Gln2081Leu
XM_011527561.1:c.6176A>T	XP_011525863.1:p.Gln2059Leu
XM_011527562.1:c.6242A>T	XP_011525864.1:p.Gln2081Leu
XM_011527563.1:c.5966A>T	XP_011525865.1:p.Gln1989Leu
XM_011527561.2:c.5678A>T	XP_011525863.2:p.Gln1893Leu
XM_011527562.2:c.6242A>T	XP_011525864.1:p.Gln2081Leu
XM_017027544.1:c.6242A>T	XP_016883033.1:p.Gln2081Leu
XM_017027545.1:c.5678A>T	XP_016883034.1:p.Gln1893Leu
XM_017027546.1:c.3206A>T	XP_016883035.1:p.Gln1069Leu
NM_014727.3:c.6242A>T MANE Select	NP_055542.1:p.Gln2081Leu