Canonical Allele Identifier: CA384681773
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 975279
ClinVar RCV Id: RCV001251821
dbSNP Id: rs1942487296

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024668T>C , CM000674.2:g.49024668T>C GRCh38
NC_000012.11:g.49418451T>C , CM000674.1:g.49418451T>C GRCh37
NC_000012.10:g.47704718T>C NCBI36
NG_027827.1:g.35657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.634A>G
ENST00000683543.2:c.15962A>G ENSP00000506726.1:p.Tyr5321Cys
ENST00000683863.1:n.1677A>G
ENST00000684428.1:c.497A>G ENSP00000507433.1:p.Tyr166Cys
ENST00000684755.1:n.497A>G
ENST00000685024.1:c.1116A>G
ENST00000685166.1:c.15971A>G ENSP00000509386.1:p.Tyr5324Cys
ENST00000688411.1:c.439A>G ENSP00000510146.1:n.439A>G
ENST00000691932.1:c.41A>G ENSP00000509037.1:p.Tyr14Cys
ENST00000692637.1:c.15959A>G ENSP00000509666.1:p.Tyr5320Cys
ENST00000301067.12:c.15962A>G MANE Select ENSP00000301067.7:p.Tyr5321Cys
ENST00000301067.11:c.15962A>G ENSP00000301067.7:p.Tyr5321Cys
NM_003482.3:c.15962A>G NP_003473.3:p.Tyr5321Cys
XM_005269162.3:c.15962A>G XP_005269219.1:p.Tyr5321Cys
XM_006719614.2:c.15971A>G XP_006719677.1:p.Tyr5324Cys
XM_006719616.2:c.15959A>G XP_006719679.1:p.Tyr5320Cys
XM_011538770.1:c.15971A>G XP_011537072.1:p.Tyr5324Cys
XM_011538771.1:c.15968A>G XP_011537073.1:p.Tyr5323Cys
XM_011538772.1:c.15962A>G XP_011537074.1:p.Tyr5321Cys
XM_011538773.1:c.15959A>G XP_011537075.1:p.Tyr5320Cys
XM_011538774.1:c.15950A>G XP_011537076.1:p.Tyr5317Cys
XM_011538775.1:c.15905A>G XP_011537077.1:p.Tyr5302Cys
XM_011538776.1:c.15878A>G XP_011537078.1:p.Tyr5293Cys
XM_005269162.4:c.15962A>G XP_005269219.1:p.Tyr5321Cys
XM_006719614.4:c.15971A>G XP_006719677.1:p.Tyr5324Cys
XM_006719616.3:c.15959A>G XP_006719679.1:p.Tyr5320Cys
XM_011538770.2:c.15971A>G XP_011537072.1:p.Tyr5324Cys
XM_011538771.2:c.15968A>G XP_011537073.1:p.Tyr5323Cys
XM_011538772.2:c.15962A>G XP_011537074.1:p.Tyr5321Cys
XM_011538773.2:c.15959A>G XP_011537075.1:p.Tyr5320Cys
XM_011538774.2:c.15950A>G XP_011537076.1:p.Tyr5317Cys
XM_011538776.2:c.15878A>G XP_011537078.1:p.Tyr5293Cys
XR_001748874.1:n.16139A>G
NM_003482.4:c.15962A>G MANE Select NP_003473.3:p.Tyr5321Cys