Canonical Allele Identifier: CA384626838

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49435928A>T (hg19) ; chr12:g.49042145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042145A>T , CM000674.2:g.49042145A>T	GRCh38
NC_000012.11:g.49435928A>T , CM000674.1:g.49435928A>T	GRCh37
NC_000012.10:g.47722195A>T	NCBI36
NG_027827.1:g.18180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.844T>A
ENST00000683543.2:c.6053T>A	ENSP00000506726.1:p.Ile2018Asn
ENST00000685166.1:c.6062T>A	ENSP00000509386.1:p.Ile2021Asn
ENST00000689060.1:c.165T>A
ENST00000689944.1:c.165T>A
ENST00000692637.1:c.6050T>A	ENSP00000509666.1:p.Ile2017Asn
ENST00000301067.12:c.6053T>A MANE Select	ENSP00000301067.7:p.Ile2018Asn
ENST00000301067.11:c.6053T>A	ENSP00000301067.7:p.Ile2018Asn
NM_003482.3:c.6053T>A	NP_003473.3:p.Ile2018Asn
XM_005269162.3:c.6053T>A	XP_005269219.1:p.Ile2018Asn
XM_006719614.2:c.6062T>A	XP_006719677.1:p.Ile2021Asn
XM_006719616.2:c.6050T>A	XP_006719679.1:p.Ile2017Asn
XM_011538770.1:c.6062T>A	XP_011537072.1:p.Ile2021Asn
XM_011538771.1:c.6059T>A	XP_011537073.1:p.Ile2020Asn
XM_011538772.1:c.6053T>A	XP_011537074.1:p.Ile2018Asn
XM_011538773.1:c.6050T>A	XP_011537075.1:p.Ile2017Asn
XM_011538774.1:c.6041T>A	XP_011537076.1:p.Ile2014Asn
XM_011538775.1:c.6062T>A	XP_011537077.1:p.Ile2021Asn
XM_011538776.1:c.6062T>A	XP_011537078.1:p.Ile2021Asn
XR_944740.1:n.8382T>A
XM_005269162.4:c.6053T>A	XP_005269219.1:p.Ile2018Asn
XM_006719614.4:c.6062T>A	XP_006719677.1:p.Ile2021Asn
XM_006719616.3:c.6050T>A	XP_006719679.1:p.Ile2017Asn
XM_011538770.2:c.6062T>A	XP_011537072.1:p.Ile2021Asn
XM_011538771.2:c.6059T>A	XP_011537073.1:p.Ile2020Asn
XM_011538772.2:c.6053T>A	XP_011537074.1:p.Ile2018Asn
XM_011538773.2:c.6050T>A	XP_011537075.1:p.Ile2017Asn
XM_011538774.2:c.6041T>A	XP_011537076.1:p.Ile2014Asn
XM_011538776.2:c.6062T>A	XP_011537078.1:p.Ile2021Asn
XR_001748874.1:n.7371T>A
NM_003482.4:c.6053T>A MANE Select	NP_003473.3:p.Ile2018Asn