Canonical Allele Identifier: CA405424473

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223353C>A (hg19) ; chr19:g.35732452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732452C>A , CM000681.2:g.35732452C>A	GRCh38
NC_000019.9:g.36223353C>A , CM000681.1:g.36223353C>A	GRCh37
NC_000019.8:g.40915193C>A	NCBI36
NG_052906.1:g.19434C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.209C>A
ENST00000673918.2:c.5837C>A	ENSP00000501283.1:p.Pro1946Gln
ENST00000674114.2:c.3444C>A	ENSP00000501039.2:n.3444C>A
ENST00000684977.1:c.1121C>A	ENSP00000509384.1:p.Pro374Gln
ENST00000689544.1:n.1056C>A
ENST00000691421.1:c.1124C>A	ENSP00000508674.1:p.Pro375Gln
ENST00000691855.1:c.5445C>A
ENST00000692961.1:c.5903C>A	ENSP00000509289.1:p.Pro1968Gln
ENST00000693677.1:c.704+123C>A	ENSP00000509779.1:n.704+123C>A
ENST00000420124.4:c.5903C>A MANE Select	ENSP00000398837.2:p.Pro1968Gln
ENST00000673918.1:c.5837C>A	ENSP00000501283.1:p.Pro1946Gln
ENST00000674114.1:c.3225C>A
ENST00000420124.2:c.5903C>A	ENSP00000398837.1:p.Pro1968Gln
NM_014727.2:c.5903C>A	NP_055542.1:p.Pro1968Gln
XM_011527561.1:c.5837C>A	XP_011525863.1:p.Pro1946Gln
XM_011527562.1:c.5903C>A	XP_011525864.1:p.Pro1968Gln
XM_011527563.1:c.5627C>A	XP_011525865.1:p.Pro1876Gln
XM_011527561.2:c.5339C>A	XP_011525863.2:p.Pro1780Gln
XM_011527562.2:c.5903C>A	XP_011525864.1:p.Pro1968Gln
XM_017027544.1:c.5903C>A	XP_016883033.1:p.Pro1968Gln
XM_017027545.1:c.5339C>A	XP_016883034.1:p.Pro1780Gln
XM_017027546.1:c.2867C>A	XP_016883035.1:p.Pro956Gln
NM_014727.3:c.5903C>A MANE Select	NP_055542.1:p.Pro1968Gln