Canonical Allele Identifier: CA405425570

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223527A>C (hg19) ; chr19:g.35732626A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732626A>C , CM000681.2:g.35732626A>C	GRCh38
NC_000019.9:g.36223527A>C , CM000681.1:g.36223527A>C	GRCh37
NC_000019.8:g.40915367A>C	NCBI36
NG_052906.1:g.19608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.383A>C
ENST00000673918.2:c.6011A>C	ENSP00000501283.1:p.Glu2004Ala
ENST00000674114.2:c.3618A>C	ENSP00000501039.2:n.3618A>C
ENST00000684977.1:c.1295A>C	ENSP00000509384.1:p.Glu432Ala
ENST00000689544.1:n.1230A>C
ENST00000691421.1:c.1298A>C	ENSP00000508674.1:p.Glu433Ala
ENST00000691855.1:c.5619A>C
ENST00000692961.1:c.6077A>C	ENSP00000509289.1:p.Glu2026Ala
ENST00000693677.1:c.704+297A>C	ENSP00000509779.1:n.704+297A>C
ENST00000420124.4:c.6077A>C MANE Select	ENSP00000398837.2:p.Glu2026Ala
ENST00000673918.1:c.6011A>C	ENSP00000501283.1:p.Glu2004Ala
ENST00000674114.1:c.3399A>C
ENST00000420124.2:c.6077A>C	ENSP00000398837.1:p.Glu2026Ala
NM_014727.2:c.6077A>C	NP_055542.1:p.Glu2026Ala
XM_011527561.1:c.6011A>C	XP_011525863.1:p.Glu2004Ala
XM_011527562.1:c.6077A>C	XP_011525864.1:p.Glu2026Ala
XM_011527563.1:c.5801A>C	XP_011525865.1:p.Glu1934Ala
XM_011527561.2:c.5513A>C	XP_011525863.2:p.Glu1838Ala
XM_011527562.2:c.6077A>C	XP_011525864.1:p.Glu2026Ala
XM_017027544.1:c.6077A>C	XP_016883033.1:p.Glu2026Ala
XM_017027545.1:c.5513A>C	XP_016883034.1:p.Glu1838Ala
XM_017027546.1:c.3041A>C	XP_016883035.1:p.Glu1014Ala
NM_014727.3:c.6077A>C MANE Select	NP_055542.1:p.Glu2026Ala