Canonical Allele Identifier: CA384675504

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49021865T>C , CM000674.2:g.49021865T>C	GRCh38
NC_000012.11:g.49415648T>C , CM000674.1:g.49415648T>C	GRCh37
NC_000012.10:g.47701915T>C	NCBI36
NG_027827.1:g.38460A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16529A>G MANE Select	NP_003473.3:p.Tyr5510Cys
ENST00000301067.12:c.16529A>G MANE Select	ENSP00000301067.7:p.Tyr5510Cys
NM_003482.3:c.16529A>G	NP_003473.3:p.Tyr5510Cys
ENST00000301067.11:c.16529A>G	ENSP00000301067.7:p.Tyr5510Cys
ENST00000526209.1:c.572A>G	ENSP00000435714.1:p.Tyr191Cys
ENST00000526209.2:c.499A>G
ENST00000681974.1:n.1201A>G
ENST00000682693.1:n.2163A>G
ENST00000682886.1:n.935A>G
ENST00000683543.2:c.16577A>G	ENSP00000506726.1:p.Tyr5526Cys
ENST00000683988.1:c.500A>G	ENSP00000506939.1:p.Tyr167Cys
ENST00000684428.1:c.1292A>G	ENSP00000507433.1:n.1292A>G
ENST00000685024.1:c.1683A>G
ENST00000685166.1:c.16538A>G	ENSP00000509386.1:p.Tyr5513Cys
ENST00000691932.1:c.530A>G	ENSP00000509037.1:p.Tyr177Cys
ENST00000692637.1:c.16526A>G	ENSP00000509666.1:p.Tyr5509Cys
XM_005269162.3:c.16529A>G	XP_005269219.1:p.Tyr5510Cys
XM_005269162.4:c.16529A>G	XP_005269219.1:p.Tyr5510Cys
XM_006719614.2:c.16538A>G	XP_006719677.1:p.Tyr5513Cys
XM_006719614.4:c.16538A>G	XP_006719677.1:p.Tyr5513Cys
XM_006719616.2:c.16526A>G	XP_006719679.1:p.Tyr5509Cys
XM_006719616.3:c.16526A>G	XP_006719679.1:p.Tyr5509Cys
XM_011538770.1:c.16586A>G	XP_011537072.1:p.Tyr5529Cys
XM_011538770.2:c.16586A>G	XP_011537072.1:p.Tyr5529Cys
XM_011538771.1:c.16583A>G	XP_011537073.1:p.Tyr5528Cys
XM_011538771.2:c.16583A>G	XP_011537073.1:p.Tyr5528Cys
XM_011538772.1:c.16577A>G	XP_011537074.1:p.Tyr5526Cys
XM_011538772.2:c.16577A>G	XP_011537074.1:p.Tyr5526Cys
XM_011538773.1:c.16574A>G	XP_011537075.1:p.Tyr5525Cys
XM_011538773.2:c.16574A>G	XP_011537075.1:p.Tyr5525Cys
XM_011538774.1:c.16565A>G	XP_011537076.1:p.Tyr5522Cys
XM_011538774.2:c.16565A>G	XP_011537076.1:p.Tyr5522Cys
XM_011538775.1:c.16520A>G	XP_011537077.1:p.Tyr5507Cys
XM_011538776.1:c.16493A>G	XP_011537078.1:p.Tyr5498Cys
XM_011538776.2:c.16493A>G	XP_011537078.1:p.Tyr5498Cys
XR_001748874.1:n.16706A>G