Canonical Allele Identifier: CA658656292

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 463022
• ClinVar RCV Id: RCV000543078
• dbSNP Id: rs1555191521
• MyVariant Identifiers: chr12:g.49433237_49433240dup (hg19) ; chr12:g.49039454_49039457dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039455_49039458dup , CM000674.2:g.49039455_49039458dup	GRCh38
NC_000012.11:g.49433238_49433241dup , CM000674.1:g.49433238_49433241dup	GRCh37
NC_000012.10:g.47719505_47719508dup	NCBI36
NG_027827.1:g.20868_20871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8207_8210dup	ENSP00000506726.1:p.Pro2738AspfsTer?
ENST00000685166.1:c.8216_8219dup	ENSP00000509386.1:p.Pro2741AspfsTer?
ENST00000689060.1:c.2226_2229dup
ENST00000689143.1:c.1880_1883dup	ENSP00000509839.1:p.Pro629AspfsTer?
ENST00000689944.1:c.2316_2319dup
ENST00000692637.1:c.8204_8207dup	ENSP00000509666.1:p.Pro2737AspfsTer?
ENST00000301067.12:c.8207_8210dup MANE Select	ENSP00000301067.7:p.Pro2738AspfsTer?
ENST00000301067.11:c.8207_8210dup	ENSP00000301067.7:p.Pro2738AspfsTer?
NM_003482.3:c.8207_8210dup	NP_003473.3:p.Pro2738AspfsTer?
XM_005269162.3:c.8207_8210dup	XP_005269219.1:p.Pro2738AspfsTer?
XM_006719614.2:c.8216_8219dup	XP_006719677.1:p.Pro2741AspfsTer?
XM_006719616.2:c.8204_8207dup	XP_006719679.1:p.Pro2737AspfsTer?
XM_011538770.1:c.8216_8219dup	XP_011537072.1:p.Pro2741AspfsTer?
XM_011538771.1:c.8213_8216dup	XP_011537073.1:p.Pro2740AspfsTer?
XM_011538772.1:c.8207_8210dup	XP_011537074.1:p.Pro2738AspfsTer?
XM_011538773.1:c.8204_8207dup	XP_011537075.1:p.Pro2737AspfsTer?
XM_011538774.1:c.8195_8198dup	XP_011537076.1:p.Pro2734AspfsTer?
XM_011538775.1:c.8216_8219dup	XP_011537077.1:p.Pro2741AspfsTer?
XM_011538776.1:c.8123_8126dup	XP_011537078.1:p.Pro2710AspfsTer?
XR_944740.1:n.10536_10539dup
XM_005269162.4:c.8207_8210dup	XP_005269219.1:p.Pro2738AspfsTer?
XM_006719614.4:c.8216_8219dup	XP_006719677.1:p.Pro2741AspfsTer?
XM_006719616.3:c.8204_8207dup	XP_006719679.1:p.Pro2737AspfsTer?
XM_011538770.2:c.8216_8219dup	XP_011537072.1:p.Pro2741AspfsTer?
XM_011538771.2:c.8213_8216dup	XP_011537073.1:p.Pro2740AspfsTer?
XM_011538772.2:c.8207_8210dup	XP_011537074.1:p.Pro2738AspfsTer?
XM_011538773.2:c.8204_8207dup	XP_011537075.1:p.Pro2737AspfsTer?
XM_011538774.2:c.8195_8198dup	XP_011537076.1:p.Pro2734AspfsTer?
XM_011538776.2:c.8123_8126dup	XP_011537078.1:p.Pro2710AspfsTer?
XR_001748874.1:n.9525_9528dup
NM_003482.4:c.8207_8210dup MANE Select	NP_003473.3:p.Pro2738AspfsTer?