Canonical Allele Identifier: CA9385733

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1969605
• ClinVar RCV Id: RCV002760186
• dbSNP Id: rs760149111
• ExAC: 19:36224090 C / G
• gnomAD v2: 19-36224090-C-G
• gnomAD v4: 19-35733189-C-G
• MyVariant Identifiers: chr19:g.36224090C>G (hg19) ; chr19:g.35733189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733189C>G , CM000681.2:g.35733189C>G	GRCh38
NC_000019.9:g.36224090C>G , CM000681.1:g.36224090C>G	GRCh37
NC_000019.8:g.40915930C>G	NCBI36
NG_052906.1:g.20171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.946C>G
ENST00000673918.2:c.6574C>G	ENSP00000501283.1:p.Pro2192Ala
ENST00000674114.2:c.4181C>G	ENSP00000501039.2:n.4181C>G
ENST00000684977.1:c.1858C>G	ENSP00000509384.1:p.Pro620Ala
ENST00000689544.1:n.1793C>G
ENST00000691421.1:c.1861C>G	ENSP00000508674.1:p.Pro621Ala
ENST00000691855.1:c.6182C>G
ENST00000692961.1:c.6640C>G	ENSP00000509289.1:p.Pro2214Ala
ENST00000693677.1:c.705-408C>G	ENSP00000509779.1:n.705-408C>G
ENST00000420124.4:c.6640C>G MANE Select	ENSP00000398837.2:p.Pro2214Ala
ENST00000673918.1:c.6574C>G	ENSP00000501283.1:p.Pro2192Ala
ENST00000674114.1:c.3962C>G
ENST00000420124.2:c.6640C>G	ENSP00000398837.1:p.Pro2214Ala
NM_014727.2:c.6640C>G	NP_055542.1:p.Pro2214Ala
XM_011527561.1:c.6574C>G	XP_011525863.1:p.Pro2192Ala
XM_011527562.1:c.6640C>G	XP_011525864.1:p.Pro2214Ala
XM_011527563.1:c.6364C>G	XP_011525865.1:p.Pro2122Ala
XM_011527561.2:c.6076C>G	XP_011525863.2:p.Pro2026Ala
XM_011527562.2:c.6640C>G	XP_011525864.1:p.Pro2214Ala
XM_017027544.1:c.6640C>G	XP_016883033.1:p.Pro2214Ala
XM_017027545.1:c.6076C>G	XP_016883034.1:p.Pro2026Ala
XM_017027546.1:c.3604C>G	XP_016883035.1:p.Pro1202Ala
NM_014727.3:c.6640C>G MANE Select	NP_055542.1:p.Pro2214Ala