Canonical Allele Identifier: CA384676975

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705046
• MyVariant Identifiers: chr12:g.49416106T>A (hg19) ; chr12:g.49022323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022323T>A , CM000674.2:g.49022323T>A	GRCh38
NC_000012.11:g.49416106T>A , CM000674.1:g.49416106T>A	GRCh37
NC_000012.10:g.47702373T>A	NCBI36
NG_027827.1:g.38002A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.339A>T
ENST00000681974.1:n.1041A>T
ENST00000682693.1:n.2003A>T
ENST00000682886.1:n.775A>T
ENST00000683543.2:c.16417A>T	ENSP00000506726.1:p.Asn5473Tyr
ENST00000683988.1:c.340A>T	ENSP00000506939.1:p.Asn114Tyr
ENST00000684428.1:c.962A>T	ENSP00000507433.1:p.Gln321Leu
ENST00000685024.1:c.1523A>T
ENST00000685166.1:c.16378A>T	ENSP00000509386.1:p.Asn5460Tyr
ENST00000691932.1:c.370A>T	ENSP00000509037.1:p.Asn124Tyr
ENST00000692637.1:c.16366A>T	ENSP00000509666.1:p.Asn5456Tyr
ENST00000301067.12:c.16369A>T MANE Select	ENSP00000301067.7:p.Asn5457Tyr
ENST00000301067.11:c.16369A>T	ENSP00000301067.7:p.Asn5457Tyr
ENST00000526209.1:c.412A>T	ENSP00000435714.1:p.Asn138Tyr
NM_003482.3:c.16369A>T	NP_003473.3:p.Asn5457Tyr
XM_005269162.3:c.16369A>T	XP_005269219.1:p.Asn5457Tyr
XM_006719614.2:c.16378A>T	XP_006719677.1:p.Asn5460Tyr
XM_006719616.2:c.16366A>T	XP_006719679.1:p.Asn5456Tyr
XM_011538770.1:c.16426A>T	XP_011537072.1:p.Asn5476Tyr
XM_011538771.1:c.16423A>T	XP_011537073.1:p.Asn5475Tyr
XM_011538772.1:c.16417A>T	XP_011537074.1:p.Asn5473Tyr
XM_011538773.1:c.16414A>T	XP_011537075.1:p.Asn5472Tyr
XM_011538774.1:c.16405A>T	XP_011537076.1:p.Asn5469Tyr
XM_011538775.1:c.16360A>T	XP_011537077.1:p.Asn5454Tyr
XM_011538776.1:c.16333A>T	XP_011537078.1:p.Asn5445Tyr
XM_005269162.4:c.16369A>T	XP_005269219.1:p.Asn5457Tyr
XM_006719614.4:c.16378A>T	XP_006719677.1:p.Asn5460Tyr
XM_006719616.3:c.16366A>T	XP_006719679.1:p.Asn5456Tyr
XM_011538770.2:c.16426A>T	XP_011537072.1:p.Asn5476Tyr
XM_011538771.2:c.16423A>T	XP_011537073.1:p.Asn5475Tyr
XM_011538772.2:c.16417A>T	XP_011537074.1:p.Asn5473Tyr
XM_011538773.2:c.16414A>T	XP_011537075.1:p.Asn5472Tyr
XM_011538774.2:c.16405A>T	XP_011537076.1:p.Asn5469Tyr
XM_011538776.2:c.16333A>T	XP_011537078.1:p.Asn5445Tyr
XR_001748874.1:n.16546A>T
NM_003482.4:c.16369A>T MANE Select	NP_003473.3:p.Asn5457Tyr