Canonical Allele Identifier: CA384626682

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49435889A>G (hg19) ; chr12:g.49042106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042106A>G , CM000674.2:g.49042106A>G	GRCh38
NC_000012.11:g.49435889A>G , CM000674.1:g.49435889A>G	GRCh37
NC_000012.10:g.47722156A>G	NCBI36
NG_027827.1:g.18219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.883T>C
ENST00000683543.2:c.6092T>C	ENSP00000506726.1:p.Leu2031Pro
ENST00000685166.1:c.6101T>C	ENSP00000509386.1:p.Leu2034Pro
ENST00000689060.1:c.204T>C
ENST00000689944.1:c.204T>C
ENST00000692637.1:c.6089T>C	ENSP00000509666.1:p.Leu2030Pro
ENST00000301067.12:c.6092T>C MANE Select	ENSP00000301067.7:p.Leu2031Pro
ENST00000301067.11:c.6092T>C	ENSP00000301067.7:p.Leu2031Pro
NM_003482.3:c.6092T>C	NP_003473.3:p.Leu2031Pro
XM_005269162.3:c.6092T>C	XP_005269219.1:p.Leu2031Pro
XM_006719614.2:c.6101T>C	XP_006719677.1:p.Leu2034Pro
XM_006719616.2:c.6089T>C	XP_006719679.1:p.Leu2030Pro
XM_011538770.1:c.6101T>C	XP_011537072.1:p.Leu2034Pro
XM_011538771.1:c.6098T>C	XP_011537073.1:p.Leu2033Pro
XM_011538772.1:c.6092T>C	XP_011537074.1:p.Leu2031Pro
XM_011538773.1:c.6089T>C	XP_011537075.1:p.Leu2030Pro
XM_011538774.1:c.6080T>C	XP_011537076.1:p.Leu2027Pro
XM_011538775.1:c.6101T>C	XP_011537077.1:p.Leu2034Pro
XM_011538776.1:c.6101T>C	XP_011537078.1:p.Leu2034Pro
XR_944740.1:n.8421T>C
XM_005269162.4:c.6092T>C	XP_005269219.1:p.Leu2031Pro
XM_006719614.4:c.6101T>C	XP_006719677.1:p.Leu2034Pro
XM_006719616.3:c.6089T>C	XP_006719679.1:p.Leu2030Pro
XM_011538770.2:c.6101T>C	XP_011537072.1:p.Leu2034Pro
XM_011538771.2:c.6098T>C	XP_011537073.1:p.Leu2033Pro
XM_011538772.2:c.6092T>C	XP_011537074.1:p.Leu2031Pro
XM_011538773.2:c.6089T>C	XP_011537075.1:p.Leu2030Pro
XM_011538774.2:c.6080T>C	XP_011537076.1:p.Leu2027Pro
XM_011538776.2:c.6101T>C	XP_011537078.1:p.Leu2034Pro
XR_001748874.1:n.7410T>C
NM_003482.4:c.6092T>C MANE Select	NP_003473.3:p.Leu2031Pro