Canonical Allele Identifier: CA9385843

Gene: KMT2B

Linked Data

• dbSNP Id: rs776513078
• ExAC: 19:36224667 CCTCCAGGAA / C
• gnomAD v2: 19-36224667-CCTCCAGGAA-C
• gnomAD v3: 19-35733766-CCTCCAGGAA-C
• gnomAD v4: 19-35733766-CCTCCAGGAA-C
• MyVariant Identifiers: chr19:g.36224668_36224676del (hg19) ; chr19:g.35733767_35733775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733768_35733776del , CM000681.2:g.35733768_35733776del	GRCh38
NC_000019.9:g.36224669_36224677del , CM000681.1:g.36224669_36224677del	GRCh37
NC_000019.8:g.40916509_40916517del	NCBI36
NG_052906.1:g.20750_20758del

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1525_1533del
ENST00000673918.2:c.6989_6997del	ENSP00000501283.1:p.Leu2330_Glu2332del
ENST00000674114.2:c.4596_4604del	ENSP00000501039.2:n.4596_4604del
ENST00000684977.1:c.2250_2258del	ENSP00000509384.1:n.2250_2258del
ENST00000689544.1:n.2296_2304del
ENST00000689929.1:c.6_14del
ENST00000691421.1:c.2186_2194del	ENSP00000508674.1:p.Leu729_Glu731del
ENST00000691855.1:c.6597_6605del
ENST00000692961.1:c.6979_6987del	ENSP00000509289.1:p.Ser2327_Asn2329del
ENST00000693175.1:c.6_14del
ENST00000693677.1:c.800_808del	ENSP00000509779.1:p.Leu267_Glu269del
ENST00000420124.4:c.7055_7063del MANE Select	ENSP00000398837.2:p.Leu2352_Glu2354del
ENST00000673918.1:c.6989_6997del	ENSP00000501283.1:p.Leu2330_Glu2332del
ENST00000674114.1:c.4377_4385del
ENST00000420124.2:c.7055_7063del	ENSP00000398837.1:p.Leu2352_Glu2354del
ENST00000592092.1:n.435_443del
NM_014727.2:c.7055_7063del	NP_055542.1:p.Leu2352_Glu2354del
XM_011527561.1:c.6989_6997del	XP_011525863.1:p.Leu2330_Glu2332del
XM_011527562.1:c.7055_7063del	XP_011525864.1:p.Leu2352_Glu2354del
XM_011527563.1:c.6779_6787del	XP_011525865.1:p.Leu2260_Glu2262del
XM_011527561.2:c.6491_6499del	XP_011525863.2:p.Leu2164_Glu2166del
XM_011527562.2:c.7055_7063del	XP_011525864.1:p.Leu2352_Glu2354del
XM_017027544.1:c.6965_6973del	XP_016883033.1:p.Leu2322_Glu2324del
XM_017027545.1:c.6491_6499del	XP_016883034.1:p.Leu2164_Glu2166del
XM_017027546.1:c.4019_4027del	XP_016883035.1:p.Leu1340_Glu1342del
NM_014727.3:c.7055_7063del MANE Select	NP_055542.1:p.Leu2352_Glu2354del