Canonical Allele Identifier: CA384703206

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120411011
• MyVariant Identifiers: chr12:g.49424695A>G (hg19) ; chr12:g.49030912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030912A>G , CM000674.2:g.49030912A>G	GRCh38
NC_000012.11:g.49424695A>G , CM000674.1:g.49424695A>G	GRCh37
NC_000012.10:g.47710962A>G	NCBI36
NG_027827.1:g.29413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.352T>C
ENST00000683543.2:c.13652T>C	ENSP00000506726.1:p.Leu4551Ser
ENST00000685166.1:c.13661T>C	ENSP00000509386.1:p.Leu4554Ser
ENST00000685982.1:c.139-144T>C	ENSP00000508613.1:n.139-144T>C
ENST00000691986.1:c.138+263T>C	ENSP00000509196.1:n.138+263T>C
ENST00000692637.1:c.13649T>C	ENSP00000509666.1:p.Leu4550Ser
ENST00000692973.1:c.253T>C	ENSP00000508893.1:n.253T>C
ENST00000301067.12:c.13652T>C MANE Select	ENSP00000301067.7:p.Leu4551Ser
ENST00000301067.11:c.13652T>C	ENSP00000301067.7:p.Leu4551Ser
ENST00000552391.1:n.352T>C
NM_003482.3:c.13652T>C	NP_003473.3:p.Leu4551Ser
XM_005269162.3:c.13652T>C	XP_005269219.1:p.Leu4551Ser
XM_006719614.2:c.13661T>C	XP_006719677.1:p.Leu4554Ser
XM_006719616.2:c.13649T>C	XP_006719679.1:p.Leu4550Ser
XM_011538770.1:c.13661T>C	XP_011537072.1:p.Leu4554Ser
XM_011538771.1:c.13658T>C	XP_011537073.1:p.Leu4553Ser
XM_011538772.1:c.13652T>C	XP_011537074.1:p.Leu4551Ser
XM_011538773.1:c.13649T>C	XP_011537075.1:p.Leu4550Ser
XM_011538774.1:c.13640T>C	XP_011537076.1:p.Leu4547Ser
XM_011538775.1:c.13661T>C	XP_011537077.1:p.Leu4554Ser
XM_011538776.1:c.13568T>C	XP_011537078.1:p.Leu4523Ser
XR_944740.1:n.15981T>C
XM_005269162.4:c.13652T>C	XP_005269219.1:p.Leu4551Ser
XM_006719614.4:c.13661T>C	XP_006719677.1:p.Leu4554Ser
XM_006719616.3:c.13649T>C	XP_006719679.1:p.Leu4550Ser
XM_011538770.2:c.13661T>C	XP_011537072.1:p.Leu4554Ser
XM_011538771.2:c.13658T>C	XP_011537073.1:p.Leu4553Ser
XM_011538772.2:c.13652T>C	XP_011537074.1:p.Leu4551Ser
XM_011538773.2:c.13649T>C	XP_011537075.1:p.Leu4550Ser
XM_011538774.2:c.13640T>C	XP_011537076.1:p.Leu4547Ser
XM_011538776.2:c.13568T>C	XP_011537078.1:p.Leu4523Ser
XR_001748874.1:n.14970T>C
NM_003482.4:c.13652T>C MANE Select	NP_003473.3:p.Leu4551Ser