Canonical Allele Identifier: CA384677132

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705145
• MyVariant Identifiers: chr12:g.49416126A>T (hg19) ; chr12:g.49022343A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022343A>T , CM000674.2:g.49022343A>T	GRCh38
NC_000012.11:g.49416126A>T , CM000674.1:g.49416126A>T	GRCh37
NC_000012.10:g.47702393A>T	NCBI36
NG_027827.1:g.37982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.319T>A
ENST00000681974.1:n.1021T>A
ENST00000682693.1:n.1983T>A
ENST00000682886.1:n.755T>A
ENST00000683543.2:c.16397T>A	ENSP00000506726.1:p.Ile5466Asn
ENST00000683988.1:c.320T>A	ENSP00000506939.1:p.Ile107Asn
ENST00000684428.1:c.942T>A	ENSP00000507433.1:p.His314Gln
ENST00000685024.1:c.1503T>A
ENST00000685166.1:c.16358T>A	ENSP00000509386.1:p.Ile5453Asn
ENST00000691932.1:c.350T>A	ENSP00000509037.1:p.Ile117Asn
ENST00000692637.1:c.16346T>A	ENSP00000509666.1:p.Ile5449Asn
ENST00000301067.12:c.16349T>A MANE Select	ENSP00000301067.7:p.Ile5450Asn
ENST00000301067.11:c.16349T>A	ENSP00000301067.7:p.Ile5450Asn
ENST00000526209.1:c.392T>A	ENSP00000435714.1:p.Ile131Asn
NM_003482.3:c.16349T>A	NP_003473.3:p.Ile5450Asn
XM_005269162.3:c.16349T>A	XP_005269219.1:p.Ile5450Asn
XM_006719614.2:c.16358T>A	XP_006719677.1:p.Ile5453Asn
XM_006719616.2:c.16346T>A	XP_006719679.1:p.Ile5449Asn
XM_011538770.1:c.16406T>A	XP_011537072.1:p.Ile5469Asn
XM_011538771.1:c.16403T>A	XP_011537073.1:p.Ile5468Asn
XM_011538772.1:c.16397T>A	XP_011537074.1:p.Ile5466Asn
XM_011538773.1:c.16394T>A	XP_011537075.1:p.Ile5465Asn
XM_011538774.1:c.16385T>A	XP_011537076.1:p.Ile5462Asn
XM_011538775.1:c.16340T>A	XP_011537077.1:p.Ile5447Asn
XM_011538776.1:c.16313T>A	XP_011537078.1:p.Ile5438Asn
XM_005269162.4:c.16349T>A	XP_005269219.1:p.Ile5450Asn
XM_006719614.4:c.16358T>A	XP_006719677.1:p.Ile5453Asn
XM_006719616.3:c.16346T>A	XP_006719679.1:p.Ile5449Asn
XM_011538770.2:c.16406T>A	XP_011537072.1:p.Ile5469Asn
XM_011538771.2:c.16403T>A	XP_011537073.1:p.Ile5468Asn
XM_011538772.2:c.16397T>A	XP_011537074.1:p.Ile5466Asn
XM_011538773.2:c.16394T>A	XP_011537075.1:p.Ile5465Asn
XM_011538774.2:c.16385T>A	XP_011537076.1:p.Ile5462Asn
XM_011538776.2:c.16313T>A	XP_011537078.1:p.Ile5438Asn
XR_001748874.1:n.16526T>A
NM_003482.4:c.16349T>A MANE Select	NP_003473.3:p.Ile5450Asn