Canonical Allele Identifier: CA384681406

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418413T>A (hg19) ; chr12:g.49024630T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024630T>A , CM000674.2:g.49024630T>A	GRCh38
NC_000012.11:g.49418413T>A , CM000674.1:g.49418413T>A	GRCh37
NC_000012.10:g.47704680T>A	NCBI36
NG_027827.1:g.35695A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.672A>T
ENST00000683543.2:c.16000A>T	ENSP00000506726.1:p.Asn5334Tyr
ENST00000683863.1:n.1715A>T
ENST00000684428.1:c.535A>T	ENSP00000507433.1:p.Asn179Tyr
ENST00000684755.1:n.535A>T
ENST00000685024.1:c.1154A>T
ENST00000685166.1:c.16009A>T	ENSP00000509386.1:p.Asn5337Tyr
ENST00000688411.1:c.477A>T	ENSP00000510146.1:n.477A>T
ENST00000691932.1:c.79A>T	ENSP00000509037.1:p.Asn27Tyr
ENST00000692637.1:c.15997A>T	ENSP00000509666.1:p.Asn5333Tyr
ENST00000301067.12:c.16000A>T MANE Select	ENSP00000301067.7:p.Asn5334Tyr
ENST00000301067.11:c.16000A>T	ENSP00000301067.7:p.Asn5334Tyr
NM_003482.3:c.16000A>T	NP_003473.3:p.Asn5334Tyr
XM_005269162.3:c.16000A>T	XP_005269219.1:p.Asn5334Tyr
XM_006719614.2:c.16009A>T	XP_006719677.1:p.Asn5337Tyr
XM_006719616.2:c.15997A>T	XP_006719679.1:p.Asn5333Tyr
XM_011538770.1:c.16009A>T	XP_011537072.1:p.Asn5337Tyr
XM_011538771.1:c.16006A>T	XP_011537073.1:p.Asn5336Tyr
XM_011538772.1:c.16000A>T	XP_011537074.1:p.Asn5334Tyr
XM_011538773.1:c.15997A>T	XP_011537075.1:p.Asn5333Tyr
XM_011538774.1:c.15988A>T	XP_011537076.1:p.Asn5330Tyr
XM_011538775.1:c.15943A>T	XP_011537077.1:p.Asn5315Tyr
XM_011538776.1:c.15916A>T	XP_011537078.1:p.Asn5306Tyr
XM_005269162.4:c.16000A>T	XP_005269219.1:p.Asn5334Tyr
XM_006719614.4:c.16009A>T	XP_006719677.1:p.Asn5337Tyr
XM_006719616.3:c.15997A>T	XP_006719679.1:p.Asn5333Tyr
XM_011538770.2:c.16009A>T	XP_011537072.1:p.Asn5337Tyr
XM_011538771.2:c.16006A>T	XP_011537073.1:p.Asn5336Tyr
XM_011538772.2:c.16000A>T	XP_011537074.1:p.Asn5334Tyr
XM_011538773.2:c.15997A>T	XP_011537075.1:p.Asn5333Tyr
XM_011538774.2:c.15988A>T	XP_011537076.1:p.Asn5330Tyr
XM_011538776.2:c.15916A>T	XP_011537078.1:p.Asn5306Tyr
XR_001748874.1:n.16177A>T
NM_003482.4:c.16000A>T MANE Select	NP_003473.3:p.Asn5334Tyr