Canonical Allele Identifier: CA384682939

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711713
• MyVariant Identifiers: chr12:g.49418652G>C (hg19) ; chr12:g.49024869G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024869G>C , CM000674.2:g.49024869G>C	GRCh38
NC_000012.11:g.49418652G>C , CM000674.1:g.49418652G>C	GRCh37
NC_000012.10:g.47704919G>C	NCBI36
NG_027827.1:g.35456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.534C>G
ENST00000683543.2:c.15862C>G	ENSP00000506726.1:p.Leu5288Val
ENST00000683863.1:n.1577C>G
ENST00000684428.1:c.397C>G	ENSP00000507433.1:p.Leu133Val
ENST00000684755.1:n.397C>G
ENST00000685024.1:c.987C>G
ENST00000685166.1:c.15871C>G	ENSP00000509386.1:p.Leu5291Val
ENST00000688411.1:c.339C>G	ENSP00000510146.1:n.339C>G
ENST00000691463.1:c.1248C>G	ENSP00000510624.1:n.1248C>G
ENST00000692637.1:c.15859C>G	ENSP00000509666.1:p.Leu5287Val
ENST00000301067.12:c.15862C>G MANE Select	ENSP00000301067.7:p.Leu5288Val
ENST00000301067.11:c.15862C>G	ENSP00000301067.7:p.Leu5288Val
NM_003482.3:c.15862C>G	NP_003473.3:p.Leu5288Val
XM_005269162.3:c.15862C>G	XP_005269219.1:p.Leu5288Val
XM_006719614.2:c.15871C>G	XP_006719677.1:p.Leu5291Val
XM_006719616.2:c.15859C>G	XP_006719679.1:p.Leu5287Val
XM_011538770.1:c.15871C>G	XP_011537072.1:p.Leu5291Val
XM_011538771.1:c.15868C>G	XP_011537073.1:p.Leu5290Val
XM_011538772.1:c.15862C>G	XP_011537074.1:p.Leu5288Val
XM_011538773.1:c.15859C>G	XP_011537075.1:p.Leu5287Val
XM_011538774.1:c.15850C>G	XP_011537076.1:p.Leu5284Val
XM_011538775.1:c.15805C>G	XP_011537077.1:p.Leu5269Val
XM_011538776.1:c.15778C>G	XP_011537078.1:p.Leu5260Val
XR_944740.1:n.17050C>G
XM_005269162.4:c.15862C>G	XP_005269219.1:p.Leu5288Val
XM_006719614.4:c.15871C>G	XP_006719677.1:p.Leu5291Val
XM_006719616.3:c.15859C>G	XP_006719679.1:p.Leu5287Val
XM_011538770.2:c.15871C>G	XP_011537072.1:p.Leu5291Val
XM_011538771.2:c.15868C>G	XP_011537073.1:p.Leu5290Val
XM_011538772.2:c.15862C>G	XP_011537074.1:p.Leu5288Val
XM_011538773.2:c.15859C>G	XP_011537075.1:p.Leu5287Val
XM_011538774.2:c.15850C>G	XP_011537076.1:p.Leu5284Val
XM_011538776.2:c.15778C>G	XP_011537078.1:p.Leu5260Val
XR_001748874.1:n.16039C>G
NM_003482.4:c.15862C>G MANE Select	NP_003473.3:p.Leu5288Val