Canonical Allele Identifier: CA479521648

Gene: KMT2D

Linked Data

• dbSNP Id: rs753303439
• MyVariant Identifiers: chr12:g.49418384A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024601A>T , CM000674.2:g.49024601A>T	GRCh38
NC_000012.11:g.49418384A>T , CM000674.1:g.49418384A>T	GRCh37
NC_000012.10:g.47704651A>T	NCBI36
NG_027827.1:g.35724T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.701T>A
ENST00000683543.2:c.16029T>A	ENSP00000506726.1:p.Pro5343=
ENST00000683863.1:n.1744T>A
ENST00000684428.1:c.564T>A	ENSP00000507433.1:p.Pro188=
ENST00000684755.1:n.564T>A
ENST00000685024.1:c.1183T>A
ENST00000685166.1:c.16038T>A	ENSP00000509386.1:p.Pro5346=
ENST00000688411.1:c.506T>A	ENSP00000510146.1:n.506T>A
ENST00000691932.1:c.108T>A	ENSP00000509037.1:p.Pro36=
ENST00000692637.1:c.16026T>A	ENSP00000509666.1:p.Pro5342=
ENST00000301067.12:c.16029T>A MANE Select	ENSP00000301067.7:p.Pro5343=
ENST00000301067.11:c.16029T>A	ENSP00000301067.7:p.Pro5343=
ENST00000526209.1:c.24T>A	ENSP00000435714.1:p.Pro8=
NM_003482.3:c.16029T>A	NP_003473.3:p.Pro5343=
XM_005269162.3:c.16029T>A	XP_005269219.1:p.Pro5343=
XM_006719614.2:c.16038T>A	XP_006719677.1:p.Pro5346=
XM_006719616.2:c.16026T>A	XP_006719679.1:p.Pro5342=
XM_011538770.1:c.16038T>A	XP_011537072.1:p.Pro5346=
XM_011538771.1:c.16035T>A	XP_011537073.1:p.Pro5345=
XM_011538772.1:c.16029T>A	XP_011537074.1:p.Pro5343=
XM_011538773.1:c.16026T>A	XP_011537075.1:p.Pro5342=
XM_011538774.1:c.16017T>A	XP_011537076.1:p.Pro5339=
XM_011538775.1:c.15972T>A	XP_011537077.1:p.Pro5324=
XM_011538776.1:c.15945T>A	XP_011537078.1:p.Pro5315=
XM_005269162.4:c.16029T>A	XP_005269219.1:p.Pro5343=
XM_006719614.4:c.16038T>A	XP_006719677.1:p.Pro5346=
XM_006719616.3:c.16026T>A	XP_006719679.1:p.Pro5342=
XM_011538770.2:c.16038T>A	XP_011537072.1:p.Pro5346=
XM_011538771.2:c.16035T>A	XP_011537073.1:p.Pro5345=
XM_011538772.2:c.16029T>A	XP_011537074.1:p.Pro5343=
XM_011538773.2:c.16026T>A	XP_011537075.1:p.Pro5342=
XM_011538774.2:c.16017T>A	XP_011537076.1:p.Pro5339=
XM_011538776.2:c.15945T>A	XP_011537078.1:p.Pro5315=
XR_001748874.1:n.16206T>A
NM_003482.4:c.16029T>A MANE Select	NP_003473.3:p.Pro5343=