Canonical Allele Identifier: CA384703535

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120412892
• gnomAD v4: 12-49030979-T-G
• MyVariant Identifiers: chr12:g.49424762T>G (hg19) ; chr12:g.49030979T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030979T>G , CM000674.2:g.49030979T>G	GRCh38
NC_000012.11:g.49424762T>G , CM000674.1:g.49424762T>G	GRCh37
NC_000012.10:g.47711029T>G	NCBI36
NG_027827.1:g.29346A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.285A>C
ENST00000683543.2:c.13585A>C	ENSP00000506726.1:p.Ser4529Arg
ENST00000685166.1:c.13594A>C	ENSP00000509386.1:p.Ser4532Arg
ENST00000685982.1:c.138+196A>C	ENSP00000508613.1:n.138+196A>C
ENST00000691986.1:c.138+196A>C	ENSP00000509196.1:n.138+196A>C
ENST00000692637.1:c.13582A>C	ENSP00000509666.1:p.Ser4528Arg
ENST00000692973.1:c.186A>C	ENSP00000508893.1:n.186A>C
ENST00000301067.12:c.13585A>C MANE Select	ENSP00000301067.7:p.Ser4529Arg
ENST00000301067.11:c.13585A>C	ENSP00000301067.7:p.Ser4529Arg
ENST00000552391.1:n.285A>C
NM_003482.3:c.13585A>C	NP_003473.3:p.Ser4529Arg
XM_005269162.3:c.13585A>C	XP_005269219.1:p.Ser4529Arg
XM_006719614.2:c.13594A>C	XP_006719677.1:p.Ser4532Arg
XM_006719616.2:c.13582A>C	XP_006719679.1:p.Ser4528Arg
XM_011538770.1:c.13594A>C	XP_011537072.1:p.Ser4532Arg
XM_011538771.1:c.13591A>C	XP_011537073.1:p.Ser4531Arg
XM_011538772.1:c.13585A>C	XP_011537074.1:p.Ser4529Arg
XM_011538773.1:c.13582A>C	XP_011537075.1:p.Ser4528Arg
XM_011538774.1:c.13573A>C	XP_011537076.1:p.Ser4525Arg
XM_011538775.1:c.13594A>C	XP_011537077.1:p.Ser4532Arg
XM_011538776.1:c.13501A>C	XP_011537078.1:p.Ser4501Arg
XR_944740.1:n.15914A>C
XM_005269162.4:c.13585A>C	XP_005269219.1:p.Ser4529Arg
XM_006719614.4:c.13594A>C	XP_006719677.1:p.Ser4532Arg
XM_006719616.3:c.13582A>C	XP_006719679.1:p.Ser4528Arg
XM_011538770.2:c.13594A>C	XP_011537072.1:p.Ser4532Arg
XM_011538771.2:c.13591A>C	XP_011537073.1:p.Ser4531Arg
XM_011538772.2:c.13585A>C	XP_011537074.1:p.Ser4529Arg
XM_011538773.2:c.13582A>C	XP_011537075.1:p.Ser4528Arg
XM_011538774.2:c.13573A>C	XP_011537076.1:p.Ser4525Arg
XM_011538776.2:c.13501A>C	XP_011537078.1:p.Ser4501Arg
XR_001748874.1:n.14903A>C
NM_003482.4:c.13585A>C MANE Select	NP_003473.3:p.Ser4529Arg