Canonical Allele Identifier: CA384675768

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703594
• MyVariant Identifiers: chr12:g.49415851C>T (hg19) ; chr12:g.49022068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022068C>T , CM000674.2:g.49022068C>T	GRCh38
NC_000012.11:g.49415851C>T , CM000674.1:g.49415851C>T	GRCh37
NC_000012.10:g.47702118C>T	NCBI36
NG_027827.1:g.38257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.466G>A
ENST00000681974.1:n.1168G>A
ENST00000682693.1:n.2130G>A
ENST00000682886.1:n.902G>A
ENST00000683543.2:c.16544G>A	ENSP00000506726.1:p.Ser5515Asn
ENST00000683988.1:c.467G>A	ENSP00000506939.1:p.Ser156Asn
ENST00000684428.1:c.1089G>A	ENSP00000507433.1:n.1089G>A
ENST00000685024.1:c.1650G>A
ENST00000685166.1:c.16505G>A	ENSP00000509386.1:p.Ser5502Asn
ENST00000691932.1:c.497G>A	ENSP00000509037.1:p.Ser166Asn
ENST00000692637.1:c.16493G>A	ENSP00000509666.1:p.Ser5498Asn
ENST00000301067.12:c.16496G>A MANE Select	ENSP00000301067.7:p.Ser5499Asn
ENST00000301067.11:c.16496G>A	ENSP00000301067.7:p.Ser5499Asn
ENST00000526209.1:c.539G>A	ENSP00000435714.1:p.Ser180Asn
NM_003482.3:c.16496G>A	NP_003473.3:p.Ser5499Asn
XM_005269162.3:c.16496G>A	XP_005269219.1:p.Ser5499Asn
XM_006719614.2:c.16505G>A	XP_006719677.1:p.Ser5502Asn
XM_006719616.2:c.16493G>A	XP_006719679.1:p.Ser5498Asn
XM_011538770.1:c.16553G>A	XP_011537072.1:p.Ser5518Asn
XM_011538771.1:c.16550G>A	XP_011537073.1:p.Ser5517Asn
XM_011538772.1:c.16544G>A	XP_011537074.1:p.Ser5515Asn
XM_011538773.1:c.16541G>A	XP_011537075.1:p.Ser5514Asn
XM_011538774.1:c.16532G>A	XP_011537076.1:p.Ser5511Asn
XM_011538775.1:c.16487G>A	XP_011537077.1:p.Ser5496Asn
XM_011538776.1:c.16460G>A	XP_011537078.1:p.Ser5487Asn
XM_005269162.4:c.16496G>A	XP_005269219.1:p.Ser5499Asn
XM_006719614.4:c.16505G>A	XP_006719677.1:p.Ser5502Asn
XM_006719616.3:c.16493G>A	XP_006719679.1:p.Ser5498Asn
XM_011538770.2:c.16553G>A	XP_011537072.1:p.Ser5518Asn
XM_011538771.2:c.16550G>A	XP_011537073.1:p.Ser5517Asn
XM_011538772.2:c.16544G>A	XP_011537074.1:p.Ser5515Asn
XM_011538773.2:c.16541G>A	XP_011537075.1:p.Ser5514Asn
XM_011538774.2:c.16532G>A	XP_011537076.1:p.Ser5511Asn
XM_011538776.2:c.16460G>A	XP_011537078.1:p.Ser5487Asn
XR_001748874.1:n.16673G>A
NM_003482.4:c.16496G>A MANE Select	NP_003473.3:p.Ser5499Asn