Canonical Allele Identifier: CA384676316

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415909T>C (hg19) ; chr12:g.49022126T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022126T>C , CM000674.2:g.49022126T>C	GRCh38
NC_000012.11:g.49415909T>C , CM000674.1:g.49415909T>C	GRCh37
NC_000012.10:g.47702176T>C	NCBI36
NG_027827.1:g.38199A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.408A>G
ENST00000681974.1:n.1110A>G
ENST00000682693.1:n.2072A>G
ENST00000682886.1:n.844A>G
ENST00000683543.2:c.16486A>G	ENSP00000506726.1:p.Asn5496Asp
ENST00000683988.1:c.409A>G	ENSP00000506939.1:p.Asn137Asp
ENST00000684428.1:c.1031A>G	ENSP00000507433.1:n.1031A>G
ENST00000685024.1:c.1592A>G
ENST00000685166.1:c.16447A>G	ENSP00000509386.1:p.Asn5483Asp
ENST00000691932.1:c.439A>G	ENSP00000509037.1:p.Asn147Asp
ENST00000692637.1:c.16435A>G	ENSP00000509666.1:p.Asn5479Asp
ENST00000301067.12:c.16438A>G MANE Select	ENSP00000301067.7:p.Asn5480Asp
ENST00000301067.11:c.16438A>G	ENSP00000301067.7:p.Asn5480Asp
ENST00000526209.1:c.481A>G	ENSP00000435714.1:p.Asn161Asp
NM_003482.3:c.16438A>G	NP_003473.3:p.Asn5480Asp
XM_005269162.3:c.16438A>G	XP_005269219.1:p.Asn5480Asp
XM_006719614.2:c.16447A>G	XP_006719677.1:p.Asn5483Asp
XM_006719616.2:c.16435A>G	XP_006719679.1:p.Asn5479Asp
XM_011538770.1:c.16495A>G	XP_011537072.1:p.Asn5499Asp
XM_011538771.1:c.16492A>G	XP_011537073.1:p.Asn5498Asp
XM_011538772.1:c.16486A>G	XP_011537074.1:p.Asn5496Asp
XM_011538773.1:c.16483A>G	XP_011537075.1:p.Asn5495Asp
XM_011538774.1:c.16474A>G	XP_011537076.1:p.Asn5492Asp
XM_011538775.1:c.16429A>G	XP_011537077.1:p.Asn5477Asp
XM_011538776.1:c.16402A>G	XP_011537078.1:p.Asn5468Asp
XM_005269162.4:c.16438A>G	XP_005269219.1:p.Asn5480Asp
XM_006719614.4:c.16447A>G	XP_006719677.1:p.Asn5483Asp
XM_006719616.3:c.16435A>G	XP_006719679.1:p.Asn5479Asp
XM_011538770.2:c.16495A>G	XP_011537072.1:p.Asn5499Asp
XM_011538771.2:c.16492A>G	XP_011537073.1:p.Asn5498Asp
XM_011538772.2:c.16486A>G	XP_011537074.1:p.Asn5496Asp
XM_011538773.2:c.16483A>G	XP_011537075.1:p.Asn5495Asp
XM_011538774.2:c.16474A>G	XP_011537076.1:p.Asn5492Asp
XM_011538776.2:c.16402A>G	XP_011537078.1:p.Asn5468Asp
XR_001748874.1:n.16615A>G
NM_003482.4:c.16438A>G MANE Select	NP_003473.3:p.Asn5480Asp