Canonical Allele Identifier: CA384682348

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 981673
• ClinVar RCV Id: RCV001261213
• dbSNP Id: rs1942494207
• MyVariant Identifiers: chr12:g.49418594G>C (hg19) ; chr12:g.49024811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024811G>C , CM000674.2:g.49024811G>C	GRCh38
NC_000012.11:g.49418594G>C , CM000674.1:g.49418594G>C	GRCh37
NC_000012.10:g.47704861G>C	NCBI36
NG_027827.1:g.35514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.592C>G
ENST00000683543.2:c.15920C>G	ENSP00000506726.1:p.Ser5307Ter
ENST00000683863.1:n.1635C>G
ENST00000684428.1:c.455C>G	ENSP00000507433.1:p.Ser152Ter
ENST00000684755.1:n.455C>G
ENST00000685024.1:c.1045C>G
ENST00000685166.1:c.15929C>G	ENSP00000509386.1:p.Ser5310Ter
ENST00000688411.1:c.397C>G	ENSP00000510146.1:n.397C>G
ENST00000691463.1:c.1306C>G	ENSP00000510624.1:n.1306C>G
ENST00000692637.1:c.15917C>G	ENSP00000509666.1:p.Ser5306Ter
ENST00000301067.12:c.15920C>G MANE Select	ENSP00000301067.7:p.Ser5307Ter
ENST00000301067.11:c.15920C>G	ENSP00000301067.7:p.Ser5307Ter
NM_003482.3:c.15920C>G	NP_003473.3:p.Ser5307Ter
XM_005269162.3:c.15920C>G	XP_005269219.1:p.Ser5307Ter
XM_006719614.2:c.15929C>G	XP_006719677.1:p.Ser5310Ter
XM_006719616.2:c.15917C>G	XP_006719679.1:p.Ser5306Ter
XM_011538770.1:c.15929C>G	XP_011537072.1:p.Ser5310Ter
XM_011538771.1:c.15926C>G	XP_011537073.1:p.Ser5309Ter
XM_011538772.1:c.15920C>G	XP_011537074.1:p.Ser5307Ter
XM_011538773.1:c.15917C>G	XP_011537075.1:p.Ser5306Ter
XM_011538774.1:c.15908C>G	XP_011537076.1:p.Ser5303Ter
XM_011538775.1:c.15863C>G	XP_011537077.1:p.Ser5288Ter
XM_011538776.1:c.15836C>G	XP_011537078.1:p.Ser5279Ter
XR_944740.1:n.17108C>G
XM_005269162.4:c.15920C>G	XP_005269219.1:p.Ser5307Ter
XM_006719614.4:c.15929C>G	XP_006719677.1:p.Ser5310Ter
XM_006719616.3:c.15917C>G	XP_006719679.1:p.Ser5306Ter
XM_011538770.2:c.15929C>G	XP_011537072.1:p.Ser5310Ter
XM_011538771.2:c.15926C>G	XP_011537073.1:p.Ser5309Ter
XM_011538772.2:c.15920C>G	XP_011537074.1:p.Ser5307Ter
XM_011538773.2:c.15917C>G	XP_011537075.1:p.Ser5306Ter
XM_011538774.2:c.15908C>G	XP_011537076.1:p.Ser5303Ter
XM_011538776.2:c.15836C>G	XP_011537078.1:p.Ser5279Ter
XR_001748874.1:n.16097C>G
NM_003482.4:c.15920C>G MANE Select	NP_003473.3:p.Ser5307Ter