Canonical Allele Identifier: CA384703492
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2120412656

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030971C>A , CM000674.2:g.49030971C>A GRCh38
NC_000012.11:g.49424754C>A , CM000674.1:g.49424754C>A GRCh37
NC_000012.10:g.47711021C>A NCBI36
NG_027827.1:g.29354G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.293G>T
ENST00000683543.2:c.13593G>T ENSP00000506726.1:p.Arg4531Ser
ENST00000685166.1:c.13602G>T ENSP00000509386.1:p.Arg4534Ser
ENST00000685982.1:c.139-203G>T ENSP00000508613.1:n.139-203G>T
ENST00000691986.1:c.138+204G>T ENSP00000509196.1:n.138+204G>T
ENST00000692637.1:c.13590G>T ENSP00000509666.1:p.Arg4530Ser
ENST00000692973.1:c.194G>T ENSP00000508893.1:n.194G>T
ENST00000301067.12:c.13593G>T MANE Select ENSP00000301067.7:p.Arg4531Ser
ENST00000301067.11:c.13593G>T ENSP00000301067.7:p.Arg4531Ser
ENST00000552391.1:n.293G>T
NM_003482.3:c.13593G>T NP_003473.3:p.Arg4531Ser
XM_005269162.3:c.13593G>T XP_005269219.1:p.Arg4531Ser
XM_006719614.2:c.13602G>T XP_006719677.1:p.Arg4534Ser
XM_006719616.2:c.13590G>T XP_006719679.1:p.Arg4530Ser
XM_011538770.1:c.13602G>T XP_011537072.1:p.Arg4534Ser
XM_011538771.1:c.13599G>T XP_011537073.1:p.Arg4533Ser
XM_011538772.1:c.13593G>T XP_011537074.1:p.Arg4531Ser
XM_011538773.1:c.13590G>T XP_011537075.1:p.Arg4530Ser
XM_011538774.1:c.13581G>T XP_011537076.1:p.Arg4527Ser
XM_011538775.1:c.13602G>T XP_011537077.1:p.Arg4534Ser
XM_011538776.1:c.13509G>T XP_011537078.1:p.Arg4503Ser
XR_944740.1:n.15922G>T
XM_005269162.4:c.13593G>T XP_005269219.1:p.Arg4531Ser
XM_006719614.4:c.13602G>T XP_006719677.1:p.Arg4534Ser
XM_006719616.3:c.13590G>T XP_006719679.1:p.Arg4530Ser
XM_011538770.2:c.13602G>T XP_011537072.1:p.Arg4534Ser
XM_011538771.2:c.13599G>T XP_011537073.1:p.Arg4533Ser
XM_011538772.2:c.13593G>T XP_011537074.1:p.Arg4531Ser
XM_011538773.2:c.13590G>T XP_011537075.1:p.Arg4530Ser
XM_011538774.2:c.13581G>T XP_011537076.1:p.Arg4527Ser
XM_011538776.2:c.13509G>T XP_011537078.1:p.Arg4503Ser
XR_001748874.1:n.14911G>T
NM_003482.4:c.13593G>T MANE Select NP_003473.3:p.Arg4531Ser