Canonical Allele Identifier: CA384681423

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418415A>T (hg19) ; chr12:g.49024632A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024632A>T , CM000674.2:g.49024632A>T	GRCh38
NC_000012.11:g.49418415A>T , CM000674.1:g.49418415A>T	GRCh37
NC_000012.10:g.47704682A>T	NCBI36
NG_027827.1:g.35693T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.670T>A
ENST00000683543.2:c.15998T>A	ENSP00000506726.1:p.Ile5333Asn
ENST00000683863.1:n.1713T>A
ENST00000684428.1:c.533T>A	ENSP00000507433.1:p.Ile178Asn
ENST00000684755.1:n.533T>A
ENST00000685024.1:c.1152T>A
ENST00000685166.1:c.16007T>A	ENSP00000509386.1:p.Ile5336Asn
ENST00000688411.1:c.475T>A	ENSP00000510146.1:n.475T>A
ENST00000691932.1:c.77T>A	ENSP00000509037.1:p.Ile26Asn
ENST00000692637.1:c.15995T>A	ENSP00000509666.1:p.Ile5332Asn
ENST00000301067.12:c.15998T>A MANE Select	ENSP00000301067.7:p.Ile5333Asn
ENST00000301067.11:c.15998T>A	ENSP00000301067.7:p.Ile5333Asn
NM_003482.3:c.15998T>A	NP_003473.3:p.Ile5333Asn
XM_005269162.3:c.15998T>A	XP_005269219.1:p.Ile5333Asn
XM_006719614.2:c.16007T>A	XP_006719677.1:p.Ile5336Asn
XM_006719616.2:c.15995T>A	XP_006719679.1:p.Ile5332Asn
XM_011538770.1:c.16007T>A	XP_011537072.1:p.Ile5336Asn
XM_011538771.1:c.16004T>A	XP_011537073.1:p.Ile5335Asn
XM_011538772.1:c.15998T>A	XP_011537074.1:p.Ile5333Asn
XM_011538773.1:c.15995T>A	XP_011537075.1:p.Ile5332Asn
XM_011538774.1:c.15986T>A	XP_011537076.1:p.Ile5329Asn
XM_011538775.1:c.15941T>A	XP_011537077.1:p.Ile5314Asn
XM_011538776.1:c.15914T>A	XP_011537078.1:p.Ile5305Asn
XM_005269162.4:c.15998T>A	XP_005269219.1:p.Ile5333Asn
XM_006719614.4:c.16007T>A	XP_006719677.1:p.Ile5336Asn
XM_006719616.3:c.15995T>A	XP_006719679.1:p.Ile5332Asn
XM_011538770.2:c.16007T>A	XP_011537072.1:p.Ile5336Asn
XM_011538771.2:c.16004T>A	XP_011537073.1:p.Ile5335Asn
XM_011538772.2:c.15998T>A	XP_011537074.1:p.Ile5333Asn
XM_011538773.2:c.15995T>A	XP_011537075.1:p.Ile5332Asn
XM_011538774.2:c.15986T>A	XP_011537076.1:p.Ile5329Asn
XM_011538776.2:c.15914T>A	XP_011537078.1:p.Ile5305Asn
XR_001748874.1:n.16175T>A
NM_003482.4:c.15998T>A MANE Select	NP_003473.3:p.Ile5333Asn