Canonical Allele Identifier: CA6545445

Gene: KMT2D

Linked Data

• dbSNP Id: rs765447096
• ExAC: 12:49418365 TG / T
• gnomAD v2: 12-49418365-TG-T
• MyVariant Identifiers: chr12:g.49418366del (hg19) ; chr12:g.49024583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024583del , CM000674.2:g.49024583del	GRCh38
NC_000012.11:g.49418366del , CM000674.1:g.49418366del	GRCh37
NC_000012.10:g.47704633del	NCBI36
NG_027827.1:g.35742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.719del
ENST00000683543.2:c.16047del	ENSP00000506726.1:p.Tyr5349Ter
ENST00000683863.1:n.1762del
ENST00000684428.1:c.582del	ENSP00000507433.1:p.Tyr194Ter
ENST00000684755.1:n.582del
ENST00000685024.1:c.1201del
ENST00000685166.1:c.16056del	ENSP00000509386.1:p.Tyr5352Ter
ENST00000688411.1:c.524del	ENSP00000510146.1:n.524del
ENST00000691932.1:c.126del	ENSP00000509037.1:p.Tyr42Ter
ENST00000692637.1:c.16044del	ENSP00000509666.1:p.Tyr5348Ter
ENST00000301067.12:c.16047del MANE Select	ENSP00000301067.7:p.Tyr5349Ter
ENST00000301067.11:c.16047del	ENSP00000301067.7:p.Tyr5349Ter
ENST00000526209.1:c.42del	ENSP00000435714.1:p.Tyr14Ter
NM_003482.3:c.16047del	NP_003473.3:p.Tyr5349Ter
XM_005269162.3:c.16047del	XP_005269219.1:p.Tyr5349Ter
XM_006719614.2:c.16056del	XP_006719677.1:p.Tyr5352Ter
XM_006719616.2:c.16044del	XP_006719679.1:p.Tyr5348Ter
XM_011538770.1:c.16056del	XP_011537072.1:p.Tyr5352Ter
XM_011538771.1:c.16053del	XP_011537073.1:p.Tyr5351Ter
XM_011538772.1:c.16047del	XP_011537074.1:p.Tyr5349Ter
XM_011538773.1:c.16044del	XP_011537075.1:p.Tyr5348Ter
XM_011538774.1:c.16035del	XP_011537076.1:p.Tyr5345Ter
XM_011538775.1:c.15990del	XP_011537077.1:p.Tyr5330Ter
XM_011538776.1:c.15963del	XP_011537078.1:p.Tyr5321Ter
XM_005269162.4:c.16047del	XP_005269219.1:p.Tyr5349Ter
XM_006719614.4:c.16056del	XP_006719677.1:p.Tyr5352Ter
XM_006719616.3:c.16044del	XP_006719679.1:p.Tyr5348Ter
XM_011538770.2:c.16056del	XP_011537072.1:p.Tyr5352Ter
XM_011538771.2:c.16053del	XP_011537073.1:p.Tyr5351Ter
XM_011538772.2:c.16047del	XP_011537074.1:p.Tyr5349Ter
XM_011538773.2:c.16044del	XP_011537075.1:p.Tyr5348Ter
XM_011538774.2:c.16035del	XP_011537076.1:p.Tyr5345Ter
XM_011538776.2:c.15963del	XP_011537078.1:p.Tyr5321Ter
XR_001748874.1:n.16224del
NM_003482.4:c.16047del MANE Select	NP_003473.3:p.Tyr5349Ter