Canonical Allele Identifier: CA384682791

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711575
• MyVariant Identifiers: chr12:g.49418634A>T (hg19) ; chr12:g.49024851A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024851A>T , CM000674.2:g.49024851A>T	GRCh38
NC_000012.11:g.49418634A>T , CM000674.1:g.49418634A>T	GRCh37
NC_000012.10:g.47704901A>T	NCBI36
NG_027827.1:g.35474T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.552T>A
ENST00000683543.2:c.15880T>A	ENSP00000506726.1:p.Phe5294Ile
ENST00000683863.1:n.1595T>A
ENST00000684428.1:c.415T>A	ENSP00000507433.1:p.Phe139Ile
ENST00000684755.1:n.415T>A
ENST00000685024.1:c.1005T>A
ENST00000685166.1:c.15889T>A	ENSP00000509386.1:p.Phe5297Ile
ENST00000688411.1:c.357T>A	ENSP00000510146.1:n.357T>A
ENST00000691463.1:c.1266T>A	ENSP00000510624.1:n.1266T>A
ENST00000692637.1:c.15877T>A	ENSP00000509666.1:p.Phe5293Ile
ENST00000301067.12:c.15880T>A MANE Select	ENSP00000301067.7:p.Phe5294Ile
ENST00000301067.11:c.15880T>A	ENSP00000301067.7:p.Phe5294Ile
NM_003482.3:c.15880T>A	NP_003473.3:p.Phe5294Ile
XM_005269162.3:c.15880T>A	XP_005269219.1:p.Phe5294Ile
XM_006719614.2:c.15889T>A	XP_006719677.1:p.Phe5297Ile
XM_006719616.2:c.15877T>A	XP_006719679.1:p.Phe5293Ile
XM_011538770.1:c.15889T>A	XP_011537072.1:p.Phe5297Ile
XM_011538771.1:c.15886T>A	XP_011537073.1:p.Phe5296Ile
XM_011538772.1:c.15880T>A	XP_011537074.1:p.Phe5294Ile
XM_011538773.1:c.15877T>A	XP_011537075.1:p.Phe5293Ile
XM_011538774.1:c.15868T>A	XP_011537076.1:p.Phe5290Ile
XM_011538775.1:c.15823T>A	XP_011537077.1:p.Phe5275Ile
XM_011538776.1:c.15796T>A	XP_011537078.1:p.Phe5266Ile
XR_944740.1:n.17068T>A
XM_005269162.4:c.15880T>A	XP_005269219.1:p.Phe5294Ile
XM_006719614.4:c.15889T>A	XP_006719677.1:p.Phe5297Ile
XM_006719616.3:c.15877T>A	XP_006719679.1:p.Phe5293Ile
XM_011538770.2:c.15889T>A	XP_011537072.1:p.Phe5297Ile
XM_011538771.2:c.15886T>A	XP_011537073.1:p.Phe5296Ile
XM_011538772.2:c.15880T>A	XP_011537074.1:p.Phe5294Ile
XM_011538773.2:c.15877T>A	XP_011537075.1:p.Phe5293Ile
XM_011538774.2:c.15868T>A	XP_011537076.1:p.Phe5290Ile
XM_011538776.2:c.15796T>A	XP_011537078.1:p.Phe5266Ile
XR_001748874.1:n.16057T>A
NM_003482.4:c.15880T>A MANE Select	NP_003473.3:p.Phe5294Ile