Canonical Allele Identifier: CA384676507

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415927T>G (hg19) ; chr12:g.49022144T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022144T>G , CM000674.2:g.49022144T>G	GRCh38
NC_000012.11:g.49415927T>G , CM000674.1:g.49415927T>G	GRCh37
NC_000012.10:g.47702194T>G	NCBI36
NG_027827.1:g.38181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.390A>C
ENST00000681974.1:n.1092A>C
ENST00000682693.1:n.2054A>C
ENST00000682886.1:n.826A>C
ENST00000683543.2:c.16468A>C	ENSP00000506726.1:p.Asn5490His
ENST00000683988.1:c.391A>C	ENSP00000506939.1:p.Asn131His
ENST00000684428.1:c.1013A>C	ENSP00000507433.1:n.1013A>C
ENST00000685024.1:c.1574A>C
ENST00000685166.1:c.16429A>C	ENSP00000509386.1:p.Asn5477His
ENST00000691932.1:c.421A>C	ENSP00000509037.1:p.Asn141His
ENST00000692637.1:c.16417A>C	ENSP00000509666.1:p.Asn5473His
ENST00000301067.12:c.16420A>C MANE Select	ENSP00000301067.7:p.Asn5474His
ENST00000301067.11:c.16420A>C	ENSP00000301067.7:p.Asn5474His
ENST00000526209.1:c.463A>C	ENSP00000435714.1:p.Asn155His
NM_003482.3:c.16420A>C	NP_003473.3:p.Asn5474His
XM_005269162.3:c.16420A>C	XP_005269219.1:p.Asn5474His
XM_006719614.2:c.16429A>C	XP_006719677.1:p.Asn5477His
XM_006719616.2:c.16417A>C	XP_006719679.1:p.Asn5473His
XM_011538770.1:c.16477A>C	XP_011537072.1:p.Asn5493His
XM_011538771.1:c.16474A>C	XP_011537073.1:p.Asn5492His
XM_011538772.1:c.16468A>C	XP_011537074.1:p.Asn5490His
XM_011538773.1:c.16465A>C	XP_011537075.1:p.Asn5489His
XM_011538774.1:c.16456A>C	XP_011537076.1:p.Asn5486His
XM_011538775.1:c.16411A>C	XP_011537077.1:p.Asn5471His
XM_011538776.1:c.16384A>C	XP_011537078.1:p.Asn5462His
XM_005269162.4:c.16420A>C	XP_005269219.1:p.Asn5474His
XM_006719614.4:c.16429A>C	XP_006719677.1:p.Asn5477His
XM_006719616.3:c.16417A>C	XP_006719679.1:p.Asn5473His
XM_011538770.2:c.16477A>C	XP_011537072.1:p.Asn5493His
XM_011538771.2:c.16474A>C	XP_011537073.1:p.Asn5492His
XM_011538772.2:c.16468A>C	XP_011537074.1:p.Asn5490His
XM_011538773.2:c.16465A>C	XP_011537075.1:p.Asn5489His
XM_011538774.2:c.16456A>C	XP_011537076.1:p.Asn5486His
XM_011538776.2:c.16384A>C	XP_011537078.1:p.Asn5462His
XR_001748874.1:n.16597A>C
NM_003482.4:c.16420A>C MANE Select	NP_003473.3:p.Asn5474His