Canonical Allele Identifier: CA384677124

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416126A>C (hg19) ; chr12:g.49022343A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.319T>G
ENST00000681974.1:n.1021T>G
ENST00000682693.1:n.1983T>G
ENST00000682886.1:n.755T>G
ENST00000683543.2:c.16397T>G	ENSP00000506726.1:p.Ile5466Ser
ENST00000683988.1:c.320T>G	ENSP00000506939.1:p.Ile107Ser
ENST00000684428.1:c.942T>G	ENSP00000507433.1:p.His314Gln
ENST00000685024.1:c.1503T>G
ENST00000685166.1:c.16358T>G	ENSP00000509386.1:p.Ile5453Ser
ENST00000691932.1:c.350T>G	ENSP00000509037.1:p.Ile117Ser
ENST00000692637.1:c.16346T>G	ENSP00000509666.1:p.Ile5449Ser
ENST00000301067.12:c.16349T>G MANE Select	ENSP00000301067.7:p.Ile5450Ser
ENST00000301067.11:c.16349T>G	ENSP00000301067.7:p.Ile5450Ser
ENST00000526209.1:c.392T>G	ENSP00000435714.1:p.Ile131Ser
NM_003482.3:c.16349T>G	NP_003473.3:p.Ile5450Ser
XM_005269162.3:c.16349T>G	XP_005269219.1:p.Ile5450Ser
XM_006719614.2:c.16358T>G	XP_006719677.1:p.Ile5453Ser
XM_006719616.2:c.16346T>G	XP_006719679.1:p.Ile5449Ser
XM_011538770.1:c.16406T>G	XP_011537072.1:p.Ile5469Ser
XM_011538771.1:c.16403T>G	XP_011537073.1:p.Ile5468Ser
XM_011538772.1:c.16397T>G	XP_011537074.1:p.Ile5466Ser
XM_011538773.1:c.16394T>G	XP_011537075.1:p.Ile5465Ser
XM_011538774.1:c.16385T>G	XP_011537076.1:p.Ile5462Ser
XM_011538775.1:c.16340T>G	XP_011537077.1:p.Ile5447Ser
XM_011538776.1:c.16313T>G	XP_011537078.1:p.Ile5438Ser
XM_005269162.4:c.16349T>G	XP_005269219.1:p.Ile5450Ser
XM_006719614.4:c.16358T>G	XP_006719677.1:p.Ile5453Ser
XM_006719616.3:c.16346T>G	XP_006719679.1:p.Ile5449Ser
XM_011538770.2:c.16406T>G	XP_011537072.1:p.Ile5469Ser
XM_011538771.2:c.16403T>G	XP_011537073.1:p.Ile5468Ser
XM_011538772.2:c.16397T>G	XP_011537074.1:p.Ile5466Ser
XM_011538773.2:c.16394T>G	XP_011537075.1:p.Ile5465Ser
XM_011538774.2:c.16385T>G	XP_011537076.1:p.Ile5462Ser
XM_011538776.2:c.16313T>G	XP_011537078.1:p.Ile5438Ser
XR_001748874.1:n.16526T>G
NM_003482.4:c.16349T>G MANE Select	NP_003473.3:p.Ile5450Ser