Canonical Allele Identifier: CA405428908

Gene: KMT2B

Linked Data

• gnomAD v3: 19-35733049-C-G
• gnomAD v4: 19-35733049-C-G
• MyVariant Identifiers: chr19:g.36223950C>G (hg19) ; chr19:g.35733049C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733049C>G , CM000681.2:g.35733049C>G	GRCh38
NC_000019.9:g.36223950C>G , CM000681.1:g.36223950C>G	GRCh37
NC_000019.8:g.40915790C>G	NCBI36
NG_052906.1:g.20031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.806C>G
ENST00000673918.2:c.6434C>G	ENSP00000501283.1:p.Pro2145Arg
ENST00000674114.2:c.4041C>G	ENSP00000501039.2:n.4041C>G
ENST00000684977.1:c.1718C>G	ENSP00000509384.1:p.Pro573Arg
ENST00000689544.1:n.1653C>G
ENST00000691421.1:c.1721C>G	ENSP00000508674.1:p.Pro574Arg
ENST00000691855.1:c.6042C>G
ENST00000692961.1:c.6500C>G	ENSP00000509289.1:p.Pro2167Arg
ENST00000693677.1:c.705-548C>G	ENSP00000509779.1:n.705-548C>G
ENST00000420124.4:c.6500C>G MANE Select	ENSP00000398837.2:p.Pro2167Arg
ENST00000673918.1:c.6434C>G	ENSP00000501283.1:p.Pro2145Arg
ENST00000674114.1:c.3822C>G
ENST00000420124.2:c.6500C>G	ENSP00000398837.1:p.Pro2167Arg
NM_014727.2:c.6500C>G	NP_055542.1:p.Pro2167Arg
XM_011527561.1:c.6434C>G	XP_011525863.1:p.Pro2145Arg
XM_011527562.1:c.6500C>G	XP_011525864.1:p.Pro2167Arg
XM_011527563.1:c.6224C>G	XP_011525865.1:p.Pro2075Arg
XM_011527561.2:c.5936C>G	XP_011525863.2:p.Pro1979Arg
XM_011527562.2:c.6500C>G	XP_011525864.1:p.Pro2167Arg
XM_017027544.1:c.6500C>G	XP_016883033.1:p.Pro2167Arg
XM_017027545.1:c.5936C>G	XP_016883034.1:p.Pro1979Arg
XM_017027546.1:c.3464C>G	XP_016883035.1:p.Pro1155Arg
NM_014727.3:c.6500C>G MANE Select	NP_055542.1:p.Pro2167Arg