Canonical Allele Identifier: CA405418811

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 549493
• ClinVar RCV Id: RCV000664059 ; RCV001004006
• dbSNP Id: rs1555731832
• gnomAD v4: 19-35730004-G-A
• MyVariant Identifiers: chr19:g.36220905G>A (hg19) ; chr19:g.35730004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730004G>A , CM000681.2:g.35730004G>A	GRCh38
NC_000019.9:g.36220905G>A , CM000681.1:g.36220905G>A	GRCh37
NC_000019.8:g.40912745G>A	NCBI36
NG_052906.1:g.16986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4889G>A	ENSP00000501283.1:p.Gly1630Asp
ENST00000674114.2:c.2496G>A	ENSP00000501039.2:n.2496G>A
ENST00000684977.1:c.173G>A	ENSP00000509384.1:p.Gly58Asp
ENST00000685168.1:c.381G>A
ENST00000689544.1:n.108G>A
ENST00000691421.1:c.176G>A	ENSP00000508674.1:p.Gly59Asp
ENST00000691855.1:c.4497G>A
ENST00000692961.1:c.4955G>A	ENSP00000509289.1:p.Gly1652Asp
ENST00000420124.4:c.4955G>A MANE Select	ENSP00000398837.2:p.Gly1652Asp
ENST00000673918.1:c.4889G>A	ENSP00000501283.1:p.Gly1630Asp
ENST00000674114.1:c.2277G>A
ENST00000420124.2:c.4955G>A	ENSP00000398837.1:p.Gly1652Asp
NM_014727.2:c.4955G>A	NP_055542.1:p.Gly1652Asp
XM_011527561.1:c.4889G>A	XP_011525863.1:p.Gly1630Asp
XM_011527562.1:c.4955G>A	XP_011525864.1:p.Gly1652Asp
XM_011527563.1:c.4679G>A	XP_011525865.1:p.Gly1560Asp
XM_011527561.2:c.4391G>A	XP_011525863.2:p.Gly1464Asp
XM_011527562.2:c.4955G>A	XP_011525864.1:p.Gly1652Asp
XM_017027544.1:c.4955G>A	XP_016883033.1:p.Gly1652Asp
XM_017027545.1:c.4391G>A	XP_016883034.1:p.Gly1464Asp
XM_017027546.1:c.1919G>A	XP_016883035.1:p.Gly640Asp
NM_014727.3:c.4955G>A MANE Select	NP_055542.1:p.Gly1652Asp