Canonical Allele Identifier: CA405429663

Gene: KMT2B

Linked Data

• dbSNP Id: rs1297987705
• gnomAD v2: 19-36224091-C-G
• gnomAD v4: 19-35733190-C-G
• MyVariant Identifiers: chr19:g.36224091C>G (hg19) ; chr19:g.35733190C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733190C>G , CM000681.2:g.35733190C>G	GRCh38
NC_000019.9:g.36224091C>G , CM000681.1:g.36224091C>G	GRCh37
NC_000019.8:g.40915931C>G	NCBI36
NG_052906.1:g.20172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.947C>G
ENST00000673918.2:c.6575C>G	ENSP00000501283.1:p.Pro2192Arg
ENST00000674114.2:c.4182C>G	ENSP00000501039.2:n.4182C>G
ENST00000684977.1:c.1859C>G	ENSP00000509384.1:p.Pro620Arg
ENST00000689544.1:n.1794C>G
ENST00000691421.1:c.1862C>G	ENSP00000508674.1:p.Pro621Arg
ENST00000691855.1:c.6183C>G
ENST00000692961.1:c.6641C>G	ENSP00000509289.1:p.Pro2214Arg
ENST00000693677.1:c.705-407C>G	ENSP00000509779.1:n.705-407C>G
ENST00000420124.4:c.6641C>G MANE Select	ENSP00000398837.2:p.Pro2214Arg
ENST00000673918.1:c.6575C>G	ENSP00000501283.1:p.Pro2192Arg
ENST00000674114.1:c.3963C>G
ENST00000420124.2:c.6641C>G	ENSP00000398837.1:p.Pro2214Arg
NM_014727.2:c.6641C>G	NP_055542.1:p.Pro2214Arg
XM_011527561.1:c.6575C>G	XP_011525863.1:p.Pro2192Arg
XM_011527562.1:c.6641C>G	XP_011525864.1:p.Pro2214Arg
XM_011527563.1:c.6365C>G	XP_011525865.1:p.Pro2122Arg
XM_011527561.2:c.6077C>G	XP_011525863.2:p.Pro2026Arg
XM_011527562.2:c.6641C>G	XP_011525864.1:p.Pro2214Arg
XM_017027544.1:c.6641C>G	XP_016883033.1:p.Pro2214Arg
XM_017027545.1:c.6077C>G	XP_016883034.1:p.Pro2026Arg
XM_017027546.1:c.3605C>G	XP_016883035.1:p.Pro1202Arg
NM_014727.3:c.6641C>G MANE Select	NP_055542.1:p.Pro2214Arg