Canonical Allele Identifier: CA384717049

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49426852C>T (hg19) ; chr12:g.49033069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033069C>T , CM000674.2:g.49033069C>T	GRCh38
NC_000012.11:g.49426852C>T , CM000674.1:g.49426852C>T	GRCh37
NC_000012.10:g.47713119C>T	NCBI36
NG_027827.1:g.27256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11636G>A	ENSP00000506726.1:p.Ser3879Asn
ENST00000685166.1:c.11645G>A	ENSP00000509386.1:p.Ser3882Asn
ENST00000685554.1:c.1196G>A	ENSP00000508640.1:p.Ser399Asn
ENST00000687201.1:c.3215G>A	ENSP00000510037.1:p.Ser1072Asn
ENST00000692637.1:c.11633G>A	ENSP00000509666.1:p.Ser3878Asn
ENST00000692841.1:c.3115G>A	ENSP00000508711.1:n.3115G>A
ENST00000301067.12:c.11636G>A MANE Select	ENSP00000301067.7:p.Ser3879Asn
ENST00000301067.11:c.11636G>A	ENSP00000301067.7:p.Ser3879Asn
NM_003482.3:c.11636G>A	NP_003473.3:p.Ser3879Asn
XM_005269162.3:c.11636G>A	XP_005269219.1:p.Ser3879Asn
XM_006719614.2:c.11645G>A	XP_006719677.1:p.Ser3882Asn
XM_006719616.2:c.11633G>A	XP_006719679.1:p.Ser3878Asn
XM_011538770.1:c.11645G>A	XP_011537072.1:p.Ser3882Asn
XM_011538771.1:c.11642G>A	XP_011537073.1:p.Ser3881Asn
XM_011538772.1:c.11636G>A	XP_011537074.1:p.Ser3879Asn
XM_011538773.1:c.11633G>A	XP_011537075.1:p.Ser3878Asn
XM_011538774.1:c.11624G>A	XP_011537076.1:p.Ser3875Asn
XM_011538775.1:c.11645G>A	XP_011537077.1:p.Ser3882Asn
XM_011538776.1:c.11552G>A	XP_011537078.1:p.Ser3851Asn
XR_944740.1:n.13965G>A
XM_005269162.4:c.11636G>A	XP_005269219.1:p.Ser3879Asn
XM_006719614.4:c.11645G>A	XP_006719677.1:p.Ser3882Asn
XM_006719616.3:c.11633G>A	XP_006719679.1:p.Ser3878Asn
XM_011538770.2:c.11645G>A	XP_011537072.1:p.Ser3882Asn
XM_011538771.2:c.11642G>A	XP_011537073.1:p.Ser3881Asn
XM_011538772.2:c.11636G>A	XP_011537074.1:p.Ser3879Asn
XM_011538773.2:c.11633G>A	XP_011537075.1:p.Ser3878Asn
XM_011538774.2:c.11624G>A	XP_011537076.1:p.Ser3875Asn
XM_011538776.2:c.11552G>A	XP_011537078.1:p.Ser3851Asn
XR_001748874.1:n.12954G>A
NM_003482.4:c.11636G>A MANE Select	NP_003473.3:p.Ser3879Asn