Canonical Allele Identifier: CA479707519
Gene: KMT2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.49424711T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49030928T>G , CM000674.2:g.49030928T>G GRCh38
NC_000012.11:g.49424711T>G , CM000674.1:g.49424711T>G GRCh37
NC_000012.10:g.47710978T>G NCBI36
NG_027827.1:g.29397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000552391.2:n.336A>C
ENST00000683543.2:c.13636A>C ENSP00000506726.1:p.Arg4546=
ENST00000685166.1:c.13645A>C ENSP00000509386.1:p.Arg4549=
ENST00000685982.1:c.139-160A>C ENSP00000508613.1:n.139-160A>C
ENST00000691986.1:c.138+247A>C ENSP00000509196.1:n.138+247A>C
ENST00000692637.1:c.13633A>C ENSP00000509666.1:p.Arg4545=
ENST00000692973.1:c.237A>C ENSP00000508893.1:n.237A>C
ENST00000301067.12:c.13636A>C MANE Select ENSP00000301067.7:p.Arg4546=
ENST00000301067.11:c.13636A>C ENSP00000301067.7:p.Arg4546=
ENST00000552391.1:n.336A>C
NM_003482.3:c.13636A>C NP_003473.3:p.Arg4546=
XM_005269162.3:c.13636A>C XP_005269219.1:p.Arg4546=
XM_006719614.2:c.13645A>C XP_006719677.1:p.Arg4549=
XM_006719616.2:c.13633A>C XP_006719679.1:p.Arg4545=
XM_011538770.1:c.13645A>C XP_011537072.1:p.Arg4549=
XM_011538771.1:c.13642A>C XP_011537073.1:p.Arg4548=
XM_011538772.1:c.13636A>C XP_011537074.1:p.Arg4546=
XM_011538773.1:c.13633A>C XP_011537075.1:p.Arg4545=
XM_011538774.1:c.13624A>C XP_011537076.1:p.Arg4542=
XM_011538775.1:c.13645A>C XP_011537077.1:p.Arg4549=
XM_011538776.1:c.13552A>C XP_011537078.1:p.Arg4518=
XR_944740.1:n.15965A>C
XM_005269162.4:c.13636A>C XP_005269219.1:p.Arg4546=
XM_006719614.4:c.13645A>C XP_006719677.1:p.Arg4549=
XM_006719616.3:c.13633A>C XP_006719679.1:p.Arg4545=
XM_011538770.2:c.13645A>C XP_011537072.1:p.Arg4549=
XM_011538771.2:c.13642A>C XP_011537073.1:p.Arg4548=
XM_011538772.2:c.13636A>C XP_011537074.1:p.Arg4546=
XM_011538773.2:c.13633A>C XP_011537075.1:p.Arg4545=
XM_011538774.2:c.13624A>C XP_011537076.1:p.Arg4542=
XM_011538776.2:c.13552A>C XP_011537078.1:p.Arg4518=
XR_001748874.1:n.14954A>C
NM_003482.4:c.13636A>C MANE Select NP_003473.3:p.Arg4546=