Canonical Allele Identifier: CA384675718

Gene: KMT2D

Linked Data

• dbSNP Id: rs752933485
• MyVariant Identifiers: chr12:g.49415841G>C (hg19) ; chr12:g.49022058G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022058G>C , CM000674.2:g.49022058G>C	GRCh38
NC_000012.11:g.49415841G>C , CM000674.1:g.49415841G>C	GRCh37
NC_000012.10:g.47702108G>C	NCBI36
NG_027827.1:g.38267C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.476C>G
ENST00000681974.1:n.1178C>G
ENST00000682693.1:n.2140C>G
ENST00000682886.1:n.912C>G
ENST00000683543.2:c.16554C>G	ENSP00000506726.1:p.Ile5518Met
ENST00000683988.1:c.477C>G	ENSP00000506939.1:p.Ile159Met
ENST00000684428.1:c.1099C>G	ENSP00000507433.1:n.1099C>G
ENST00000685024.1:c.1660C>G
ENST00000685166.1:c.16515C>G	ENSP00000509386.1:p.Ile5505Met
ENST00000691932.1:c.507C>G	ENSP00000509037.1:p.Ile169Met
ENST00000692637.1:c.16503C>G	ENSP00000509666.1:p.Ile5501Met
ENST00000301067.12:c.16506C>G MANE Select	ENSP00000301067.7:p.Ile5502Met
ENST00000301067.11:c.16506C>G	ENSP00000301067.7:p.Ile5502Met
ENST00000526209.1:c.549C>G	ENSP00000435714.1:p.Ile183Met
NM_003482.3:c.16506C>G	NP_003473.3:p.Ile5502Met
XM_005269162.3:c.16506C>G	XP_005269219.1:p.Ile5502Met
XM_006719614.2:c.16515C>G	XP_006719677.1:p.Ile5505Met
XM_006719616.2:c.16503C>G	XP_006719679.1:p.Ile5501Met
XM_011538770.1:c.16563C>G	XP_011537072.1:p.Ile5521Met
XM_011538771.1:c.16560C>G	XP_011537073.1:p.Ile5520Met
XM_011538772.1:c.16554C>G	XP_011537074.1:p.Ile5518Met
XM_011538773.1:c.16551C>G	XP_011537075.1:p.Ile5517Met
XM_011538774.1:c.16542C>G	XP_011537076.1:p.Ile5514Met
XM_011538775.1:c.16497C>G	XP_011537077.1:p.Ile5499Met
XM_011538776.1:c.16470C>G	XP_011537078.1:p.Ile5490Met
XM_005269162.4:c.16506C>G	XP_005269219.1:p.Ile5502Met
XM_006719614.4:c.16515C>G	XP_006719677.1:p.Ile5505Met
XM_006719616.3:c.16503C>G	XP_006719679.1:p.Ile5501Met
XM_011538770.2:c.16563C>G	XP_011537072.1:p.Ile5521Met
XM_011538771.2:c.16560C>G	XP_011537073.1:p.Ile5520Met
XM_011538772.2:c.16554C>G	XP_011537074.1:p.Ile5518Met
XM_011538773.2:c.16551C>G	XP_011537075.1:p.Ile5517Met
XM_011538774.2:c.16542C>G	XP_011537076.1:p.Ile5514Met
XM_011538776.2:c.16470C>G	XP_011537078.1:p.Ile5490Met
XR_001748874.1:n.16683C>G
NM_003482.4:c.16506C>G MANE Select	NP_003473.3:p.Ile5502Met