Canonical Allele Identifier: CA384675924

Gene: KMT2D

Linked Data

• dbSNP Id: rs1199139730
• gnomAD v2: 12-49415873-C-T
• gnomAD v4: 12-49022090-C-T
• MyVariant Identifiers: chr12:g.49415873C>T (hg19) ; chr12:g.49022090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022090C>T , CM000674.2:g.49022090C>T	GRCh38
NC_000012.11:g.49415873C>T , CM000674.1:g.49415873C>T	GRCh37
NC_000012.10:g.47702140C>T	NCBI36
NG_027827.1:g.38235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.444G>A
ENST00000681974.1:n.1146G>A
ENST00000682693.1:n.2108G>A
ENST00000682886.1:n.880G>A
ENST00000683543.2:c.16522G>A	ENSP00000506726.1:p.Asp5508Asn
ENST00000683988.1:c.445G>A	ENSP00000506939.1:p.Asp149Asn
ENST00000684428.1:c.1067G>A	ENSP00000507433.1:n.1067G>A
ENST00000685024.1:c.1628G>A
ENST00000685166.1:c.16483G>A	ENSP00000509386.1:p.Asp5495Asn
ENST00000691932.1:c.475G>A	ENSP00000509037.1:p.Asp159Asn
ENST00000692637.1:c.16471G>A	ENSP00000509666.1:p.Asp5491Asn
ENST00000301067.12:c.16474G>A MANE Select	ENSP00000301067.7:p.Asp5492Asn
ENST00000301067.11:c.16474G>A	ENSP00000301067.7:p.Asp5492Asn
ENST00000526209.1:c.517G>A	ENSP00000435714.1:p.Asp173Asn
NM_003482.3:c.16474G>A	NP_003473.3:p.Asp5492Asn
XM_005269162.3:c.16474G>A	XP_005269219.1:p.Asp5492Asn
XM_006719614.2:c.16483G>A	XP_006719677.1:p.Asp5495Asn
XM_006719616.2:c.16471G>A	XP_006719679.1:p.Asp5491Asn
XM_011538770.1:c.16531G>A	XP_011537072.1:p.Asp5511Asn
XM_011538771.1:c.16528G>A	XP_011537073.1:p.Asp5510Asn
XM_011538772.1:c.16522G>A	XP_011537074.1:p.Asp5508Asn
XM_011538773.1:c.16519G>A	XP_011537075.1:p.Asp5507Asn
XM_011538774.1:c.16510G>A	XP_011537076.1:p.Asp5504Asn
XM_011538775.1:c.16465G>A	XP_011537077.1:p.Asp5489Asn
XM_011538776.1:c.16438G>A	XP_011537078.1:p.Asp5480Asn
XM_005269162.4:c.16474G>A	XP_005269219.1:p.Asp5492Asn
XM_006719614.4:c.16483G>A	XP_006719677.1:p.Asp5495Asn
XM_006719616.3:c.16471G>A	XP_006719679.1:p.Asp5491Asn
XM_011538770.2:c.16531G>A	XP_011537072.1:p.Asp5511Asn
XM_011538771.2:c.16528G>A	XP_011537073.1:p.Asp5510Asn
XM_011538772.2:c.16522G>A	XP_011537074.1:p.Asp5508Asn
XM_011538773.2:c.16519G>A	XP_011537075.1:p.Asp5507Asn
XM_011538774.2:c.16510G>A	XP_011537076.1:p.Asp5504Asn
XM_011538776.2:c.16438G>A	XP_011537078.1:p.Asp5480Asn
XR_001748874.1:n.16651G>A
NM_003482.4:c.16474G>A MANE Select	NP_003473.3:p.Asp5492Asn