Canonical Allele Identifier: CA384703490

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120412625
• MyVariant Identifiers: chr12:g.49424753A>C (hg19) ; chr12:g.49030970A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030970A>C , CM000674.2:g.49030970A>C	GRCh38
NC_000012.11:g.49424753A>C , CM000674.1:g.49424753A>C	GRCh37
NC_000012.10:g.47711020A>C	NCBI36
NG_027827.1:g.29355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.294T>G
ENST00000683543.2:c.13594T>G	ENSP00000506726.1:p.Leu4532Val
ENST00000685166.1:c.13603T>G	ENSP00000509386.1:p.Leu4535Val
ENST00000685982.1:c.139-202T>G	ENSP00000508613.1:n.139-202T>G
ENST00000691986.1:c.138+205T>G	ENSP00000509196.1:n.138+205T>G
ENST00000692637.1:c.13591T>G	ENSP00000509666.1:p.Leu4531Val
ENST00000692973.1:c.195T>G	ENSP00000508893.1:n.195T>G
ENST00000301067.12:c.13594T>G MANE Select	ENSP00000301067.7:p.Leu4532Val
ENST00000301067.11:c.13594T>G	ENSP00000301067.7:p.Leu4532Val
ENST00000552391.1:n.294T>G
NM_003482.3:c.13594T>G	NP_003473.3:p.Leu4532Val
XM_005269162.3:c.13594T>G	XP_005269219.1:p.Leu4532Val
XM_006719614.2:c.13603T>G	XP_006719677.1:p.Leu4535Val
XM_006719616.2:c.13591T>G	XP_006719679.1:p.Leu4531Val
XM_011538770.1:c.13603T>G	XP_011537072.1:p.Leu4535Val
XM_011538771.1:c.13600T>G	XP_011537073.1:p.Leu4534Val
XM_011538772.1:c.13594T>G	XP_011537074.1:p.Leu4532Val
XM_011538773.1:c.13591T>G	XP_011537075.1:p.Leu4531Val
XM_011538774.1:c.13582T>G	XP_011537076.1:p.Leu4528Val
XM_011538775.1:c.13603T>G	XP_011537077.1:p.Leu4535Val
XM_011538776.1:c.13510T>G	XP_011537078.1:p.Leu4504Val
XR_944740.1:n.15923T>G
XM_005269162.4:c.13594T>G	XP_005269219.1:p.Leu4532Val
XM_006719614.4:c.13603T>G	XP_006719677.1:p.Leu4535Val
XM_006719616.3:c.13591T>G	XP_006719679.1:p.Leu4531Val
XM_011538770.2:c.13603T>G	XP_011537072.1:p.Leu4535Val
XM_011538771.2:c.13600T>G	XP_011537073.1:p.Leu4534Val
XM_011538772.2:c.13594T>G	XP_011537074.1:p.Leu4532Val
XM_011538773.2:c.13591T>G	XP_011537075.1:p.Leu4531Val
XM_011538774.2:c.13582T>G	XP_011537076.1:p.Leu4528Val
XM_011538776.2:c.13510T>G	XP_011537078.1:p.Leu4504Val
XR_001748874.1:n.14912T>G
NM_003482.4:c.13594T>G MANE Select	NP_003473.3:p.Leu4532Val