Canonical Allele Identifier: CA479521675

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418414G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024631G>T , CM000674.2:g.49024631G>T	GRCh38
NC_000012.11:g.49418414G>T , CM000674.1:g.49418414G>T	GRCh37
NC_000012.10:g.47704681G>T	NCBI36
NG_027827.1:g.35694C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.671C>A
ENST00000683543.2:c.15999C>A	ENSP00000506726.1:p.Ile5333=
ENST00000683863.1:n.1714C>A
ENST00000684428.1:c.534C>A	ENSP00000507433.1:p.Ile178=
ENST00000684755.1:n.534C>A
ENST00000685024.1:c.1153C>A
ENST00000685166.1:c.16008C>A	ENSP00000509386.1:p.Ile5336=
ENST00000688411.1:c.476C>A	ENSP00000510146.1:n.476C>A
ENST00000691932.1:c.78C>A	ENSP00000509037.1:p.Ile26=
ENST00000692637.1:c.15996C>A	ENSP00000509666.1:p.Ile5332=
ENST00000301067.12:c.15999C>A MANE Select	ENSP00000301067.7:p.Ile5333=
ENST00000301067.11:c.15999C>A	ENSP00000301067.7:p.Ile5333=
NM_003482.3:c.15999C>A	NP_003473.3:p.Ile5333=
XM_005269162.3:c.15999C>A	XP_005269219.1:p.Ile5333=
XM_006719614.2:c.16008C>A	XP_006719677.1:p.Ile5336=
XM_006719616.2:c.15996C>A	XP_006719679.1:p.Ile5332=
XM_011538770.1:c.16008C>A	XP_011537072.1:p.Ile5336=
XM_011538771.1:c.16005C>A	XP_011537073.1:p.Ile5335=
XM_011538772.1:c.15999C>A	XP_011537074.1:p.Ile5333=
XM_011538773.1:c.15996C>A	XP_011537075.1:p.Ile5332=
XM_011538774.1:c.15987C>A	XP_011537076.1:p.Ile5329=
XM_011538775.1:c.15942C>A	XP_011537077.1:p.Ile5314=
XM_011538776.1:c.15915C>A	XP_011537078.1:p.Ile5305=
XM_005269162.4:c.15999C>A	XP_005269219.1:p.Ile5333=
XM_006719614.4:c.16008C>A	XP_006719677.1:p.Ile5336=
XM_006719616.3:c.15996C>A	XP_006719679.1:p.Ile5332=
XM_011538770.2:c.16008C>A	XP_011537072.1:p.Ile5336=
XM_011538771.2:c.16005C>A	XP_011537073.1:p.Ile5335=
XM_011538772.2:c.15999C>A	XP_011537074.1:p.Ile5333=
XM_011538773.2:c.15996C>A	XP_011537075.1:p.Ile5332=
XM_011538774.2:c.15987C>A	XP_011537076.1:p.Ile5329=
XM_011538776.2:c.15915C>A	XP_011537078.1:p.Ile5305=
XR_001748874.1:n.16176C>A
NM_003482.4:c.15999C>A MANE Select	NP_003473.3:p.Ile5333=