Canonical Allele Identifier: CA384626722

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49435899A>C (hg19) ; chr12:g.49042116A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042116A>C , CM000674.2:g.49042116A>C	GRCh38
NC_000012.11:g.49435899A>C , CM000674.1:g.49435899A>C	GRCh37
NC_000012.10:g.47722166A>C	NCBI36
NG_027827.1:g.18209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.873T>G
ENST00000683543.2:c.6082T>G	ENSP00000506726.1:p.Phe2028Val
ENST00000685166.1:c.6091T>G	ENSP00000509386.1:p.Phe2031Val
ENST00000689060.1:c.194T>G
ENST00000689944.1:c.194T>G
ENST00000692637.1:c.6079T>G	ENSP00000509666.1:p.Phe2027Val
ENST00000301067.12:c.6082T>G MANE Select	ENSP00000301067.7:p.Phe2028Val
ENST00000301067.11:c.6082T>G	ENSP00000301067.7:p.Phe2028Val
NM_003482.3:c.6082T>G	NP_003473.3:p.Phe2028Val
XM_005269162.3:c.6082T>G	XP_005269219.1:p.Phe2028Val
XM_006719614.2:c.6091T>G	XP_006719677.1:p.Phe2031Val
XM_006719616.2:c.6079T>G	XP_006719679.1:p.Phe2027Val
XM_011538770.1:c.6091T>G	XP_011537072.1:p.Phe2031Val
XM_011538771.1:c.6088T>G	XP_011537073.1:p.Phe2030Val
XM_011538772.1:c.6082T>G	XP_011537074.1:p.Phe2028Val
XM_011538773.1:c.6079T>G	XP_011537075.1:p.Phe2027Val
XM_011538774.1:c.6070T>G	XP_011537076.1:p.Phe2024Val
XM_011538775.1:c.6091T>G	XP_011537077.1:p.Phe2031Val
XM_011538776.1:c.6091T>G	XP_011537078.1:p.Phe2031Val
XR_944740.1:n.8411T>G
XM_005269162.4:c.6082T>G	XP_005269219.1:p.Phe2028Val
XM_006719614.4:c.6091T>G	XP_006719677.1:p.Phe2031Val
XM_006719616.3:c.6079T>G	XP_006719679.1:p.Phe2027Val
XM_011538770.2:c.6091T>G	XP_011537072.1:p.Phe2031Val
XM_011538771.2:c.6088T>G	XP_011537073.1:p.Phe2030Val
XM_011538772.2:c.6082T>G	XP_011537074.1:p.Phe2028Val
XM_011538773.2:c.6079T>G	XP_011537075.1:p.Phe2027Val
XM_011538774.2:c.6070T>G	XP_011537076.1:p.Phe2024Val
XM_011538776.2:c.6091T>G	XP_011537078.1:p.Phe2031Val
XR_001748874.1:n.7400T>G
NM_003482.4:c.6082T>G MANE Select	NP_003473.3:p.Phe2028Val