Canonical Allele Identifier: CA479520931

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942359873
• MyVariant Identifiers: chr12:g.49415928A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022145A>T , CM000674.2:g.49022145A>T	GRCh38
NC_000012.11:g.49415928A>T , CM000674.1:g.49415928A>T	GRCh37
NC_000012.10:g.47702195A>T	NCBI36
NG_027827.1:g.38180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.389T>A
ENST00000681974.1:n.1091T>A
ENST00000682693.1:n.2053T>A
ENST00000682886.1:n.825T>A
ENST00000683543.2:c.16467T>A	ENSP00000506726.1:p.Ile5489=
ENST00000683988.1:c.390T>A	ENSP00000506939.1:p.Ile130=
ENST00000684428.1:c.1012T>A	ENSP00000507433.1:n.1012T>A
ENST00000685024.1:c.1573T>A
ENST00000685166.1:c.16428T>A	ENSP00000509386.1:p.Ile5476=
ENST00000691932.1:c.420T>A	ENSP00000509037.1:p.Ile140=
ENST00000692637.1:c.16416T>A	ENSP00000509666.1:p.Ile5472=
ENST00000301067.12:c.16419T>A MANE Select	ENSP00000301067.7:p.Ile5473=
ENST00000301067.11:c.16419T>A	ENSP00000301067.7:p.Ile5473=
ENST00000526209.1:c.462T>A	ENSP00000435714.1:p.Ile154=
NM_003482.3:c.16419T>A	NP_003473.3:p.Ile5473=
XM_005269162.3:c.16419T>A	XP_005269219.1:p.Ile5473=
XM_006719614.2:c.16428T>A	XP_006719677.1:p.Ile5476=
XM_006719616.2:c.16416T>A	XP_006719679.1:p.Ile5472=
XM_011538770.1:c.16476T>A	XP_011537072.1:p.Ile5492=
XM_011538771.1:c.16473T>A	XP_011537073.1:p.Ile5491=
XM_011538772.1:c.16467T>A	XP_011537074.1:p.Ile5489=
XM_011538773.1:c.16464T>A	XP_011537075.1:p.Ile5488=
XM_011538774.1:c.16455T>A	XP_011537076.1:p.Ile5485=
XM_011538775.1:c.16410T>A	XP_011537077.1:p.Ile5470=
XM_011538776.1:c.16383T>A	XP_011537078.1:p.Ile5461=
XM_005269162.4:c.16419T>A	XP_005269219.1:p.Ile5473=
XM_006719614.4:c.16428T>A	XP_006719677.1:p.Ile5476=
XM_006719616.3:c.16416T>A	XP_006719679.1:p.Ile5472=
XM_011538770.2:c.16476T>A	XP_011537072.1:p.Ile5492=
XM_011538771.2:c.16473T>A	XP_011537073.1:p.Ile5491=
XM_011538772.2:c.16467T>A	XP_011537074.1:p.Ile5489=
XM_011538773.2:c.16464T>A	XP_011537075.1:p.Ile5488=
XM_011538774.2:c.16455T>A	XP_011537076.1:p.Ile5485=
XM_011538776.2:c.16383T>A	XP_011537078.1:p.Ile5461=
XR_001748874.1:n.16596T>A
NM_003482.4:c.16419T>A MANE Select	NP_003473.3:p.Ile5473=