Canonical Allele Identifier: CA16606629
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 379611
ClinVar RCV Id: RCV000428424
dbSNP Id: rs1057520667
MyVariant Identifiers: chr12:g.49415656C>T (hg19) chr12:g.49021873C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49021873C>T , CM000674.2:g.49021873C>T GRCh38
NC_000012.11:g.49415656C>T , CM000674.1:g.49415656C>T GRCh37
NC_000012.10:g.47701923C>T NCBI36
NG_027827.1:g.38452G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000526209.2:c.492-1G>A
ENST00000681974.1:n.1194-1G>A
ENST00000682693.1:n.2156-1G>A
ENST00000682886.1:n.928-1G>A
ENST00000683543.2:c.16570-1G>A ENSP00000506726.1:n.16570-1G>A
ENST00000683988.1:c.493-1G>A ENSP00000506939.1:n.493-1G>A
ENST00000684428.1:c.1284G>A ENSP00000507433.1:n.1284G>A
ENST00000685024.1:c.1676-1G>A
ENST00000685166.1:c.16531-1G>A ENSP00000509386.1:n.16531-1G>A
ENST00000691932.1:c.523-1G>A ENSP00000509037.1:n.523-1G>A
ENST00000692637.1:c.16519-1G>A ENSP00000509666.1:n.16519-1G>A
ENST00000301067.12:c.16522-1G>A MANE Select ENSP00000301067.7:n.16522-1G>A
ENST00000301067.11:c.16522-1G>A ENSP00000301067.7:n.16522-1G>A
ENST00000526209.1:c.565-1G>A ENSP00000435714.1:n.565-1G>A
NM_003482.3:c.16522-1G>A NP_003473.3:n.16522-1G>A
XM_005269162.3:c.16522-1G>A XP_005269219.1:n.16522-1G>A
XM_006719614.2:c.16531-1G>A XP_006719677.1:n.16531-1G>A
XM_006719616.2:c.16519-1G>A XP_006719679.1:n.16519-1G>A
XM_011538770.1:c.16579-1G>A XP_011537072.1:n.16579-1G>A
XM_011538771.1:c.16576-1G>A XP_011537073.1:n.16576-1G>A
XM_011538772.1:c.16570-1G>A XP_011537074.1:n.16570-1G>A
XM_011538773.1:c.16567-1G>A XP_011537075.1:n.16567-1G>A
XM_011538774.1:c.16558-1G>A XP_011537076.1:n.16558-1G>A
XM_011538775.1:c.16513-1G>A XP_011537077.1:n.16513-1G>A
XM_011538776.1:c.16486-1G>A XP_011537078.1:n.16486-1G>A
XM_005269162.4:c.16522-1G>A XP_005269219.1:n.16522-1G>A
XM_006719614.4:c.16531-1G>A XP_006719677.1:n.16531-1G>A
XM_006719616.3:c.16519-1G>A XP_006719679.1:n.16519-1G>A
XM_011538770.2:c.16579-1G>A XP_011537072.1:n.16579-1G>A
XM_011538771.2:c.16576-1G>A XP_011537073.1:n.16576-1G>A
XM_011538772.2:c.16570-1G>A XP_011537074.1:n.16570-1G>A
XM_011538773.2:c.16567-1G>A XP_011537075.1:n.16567-1G>A
XM_011538774.2:c.16558-1G>A XP_011537076.1:n.16558-1G>A
XM_011538776.2:c.16486-1G>A XP_011537078.1:n.16486-1G>A
XR_001748874.1:n.16699-1G>A
NM_003482.4:c.16522-1G>A MANE Select NP_003473.3:n.16522-1G>A
Search 100 bp 5'
Search 100 bp 3'