Canonical Allele Identifier: CA479521971
Gene: KMT2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.49418608A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024825A>C , CM000674.2:g.49024825A>C GRCh38
NC_000012.11:g.49418608A>C , CM000674.1:g.49418608A>C GRCh37
NC_000012.10:g.47704875A>C NCBI36
NG_027827.1:g.35500T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.578T>G
ENST00000683543.2:c.15906T>G ENSP00000506726.1:p.Leu5302=
ENST00000683863.1:n.1621T>G
ENST00000684428.1:c.441T>G ENSP00000507433.1:p.Leu147=
ENST00000684755.1:n.441T>G
ENST00000685024.1:c.1031T>G
ENST00000685166.1:c.15915T>G ENSP00000509386.1:p.Leu5305=
ENST00000688411.1:c.383T>G ENSP00000510146.1:n.383T>G
ENST00000691463.1:c.1292T>G ENSP00000510624.1:n.1292T>G
ENST00000692637.1:c.15903T>G ENSP00000509666.1:p.Leu5301=
ENST00000301067.12:c.15906T>G MANE Select ENSP00000301067.7:p.Leu5302=
ENST00000301067.11:c.15906T>G ENSP00000301067.7:p.Leu5302=
NM_003482.3:c.15906T>G NP_003473.3:p.Leu5302=
XM_005269162.3:c.15906T>G XP_005269219.1:p.Leu5302=
XM_006719614.2:c.15915T>G XP_006719677.1:p.Leu5305=
XM_006719616.2:c.15903T>G XP_006719679.1:p.Leu5301=
XM_011538770.1:c.15915T>G XP_011537072.1:p.Leu5305=
XM_011538771.1:c.15912T>G XP_011537073.1:p.Leu5304=
XM_011538772.1:c.15906T>G XP_011537074.1:p.Leu5302=
XM_011538773.1:c.15903T>G XP_011537075.1:p.Leu5301=
XM_011538774.1:c.15894T>G XP_011537076.1:p.Leu5298=
XM_011538775.1:c.15849T>G XP_011537077.1:p.Leu5283=
XM_011538776.1:c.15822T>G XP_011537078.1:p.Leu5274=
XR_944740.1:n.17094T>G
XM_005269162.4:c.15906T>G XP_005269219.1:p.Leu5302=
XM_006719614.4:c.15915T>G XP_006719677.1:p.Leu5305=
XM_006719616.3:c.15903T>G XP_006719679.1:p.Leu5301=
XM_011538770.2:c.15915T>G XP_011537072.1:p.Leu5305=
XM_011538771.2:c.15912T>G XP_011537073.1:p.Leu5304=
XM_011538772.2:c.15906T>G XP_011537074.1:p.Leu5302=
XM_011538773.2:c.15903T>G XP_011537075.1:p.Leu5301=
XM_011538774.2:c.15894T>G XP_011537076.1:p.Leu5298=
XM_011538776.2:c.15822T>G XP_011537078.1:p.Leu5274=
XR_001748874.1:n.16083T>G
NM_003482.4:c.15906T>G MANE Select NP_003473.3:p.Leu5302=