Canonical Allele Identifier: CA384676313

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703954
• MyVariant Identifiers: chr12:g.49415908T>G (hg19) ; chr12:g.49022125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022125T>G , CM000674.2:g.49022125T>G	GRCh38
NC_000012.11:g.49415908T>G , CM000674.1:g.49415908T>G	GRCh37
NC_000012.10:g.47702175T>G	NCBI36
NG_027827.1:g.38200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.409A>C
ENST00000681974.1:n.1111A>C
ENST00000682693.1:n.2073A>C
ENST00000682886.1:n.845A>C
ENST00000683543.2:c.16487A>C	ENSP00000506726.1:p.Asn5496Thr
ENST00000683988.1:c.410A>C	ENSP00000506939.1:p.Asn137Thr
ENST00000684428.1:c.1032A>C	ENSP00000507433.1:n.1032A>C
ENST00000685024.1:c.1593A>C
ENST00000685166.1:c.16448A>C	ENSP00000509386.1:p.Asn5483Thr
ENST00000691932.1:c.440A>C	ENSP00000509037.1:p.Asn147Thr
ENST00000692637.1:c.16436A>C	ENSP00000509666.1:p.Asn5479Thr
ENST00000301067.12:c.16439A>C MANE Select	ENSP00000301067.7:p.Asn5480Thr
ENST00000301067.11:c.16439A>C	ENSP00000301067.7:p.Asn5480Thr
ENST00000526209.1:c.482A>C	ENSP00000435714.1:p.Asn161Thr
NM_003482.3:c.16439A>C	NP_003473.3:p.Asn5480Thr
XM_005269162.3:c.16439A>C	XP_005269219.1:p.Asn5480Thr
XM_006719614.2:c.16448A>C	XP_006719677.1:p.Asn5483Thr
XM_006719616.2:c.16436A>C	XP_006719679.1:p.Asn5479Thr
XM_011538770.1:c.16496A>C	XP_011537072.1:p.Asn5499Thr
XM_011538771.1:c.16493A>C	XP_011537073.1:p.Asn5498Thr
XM_011538772.1:c.16487A>C	XP_011537074.1:p.Asn5496Thr
XM_011538773.1:c.16484A>C	XP_011537075.1:p.Asn5495Thr
XM_011538774.1:c.16475A>C	XP_011537076.1:p.Asn5492Thr
XM_011538775.1:c.16430A>C	XP_011537077.1:p.Asn5477Thr
XM_011538776.1:c.16403A>C	XP_011537078.1:p.Asn5468Thr
XM_005269162.4:c.16439A>C	XP_005269219.1:p.Asn5480Thr
XM_006719614.4:c.16448A>C	XP_006719677.1:p.Asn5483Thr
XM_006719616.3:c.16436A>C	XP_006719679.1:p.Asn5479Thr
XM_011538770.2:c.16496A>C	XP_011537072.1:p.Asn5499Thr
XM_011538771.2:c.16493A>C	XP_011537073.1:p.Asn5498Thr
XM_011538772.2:c.16487A>C	XP_011537074.1:p.Asn5496Thr
XM_011538773.2:c.16484A>C	XP_011537075.1:p.Asn5495Thr
XM_011538774.2:c.16475A>C	XP_011537076.1:p.Asn5492Thr
XM_011538776.2:c.16403A>C	XP_011537078.1:p.Asn5468Thr
XR_001748874.1:n.16616A>C
NM_003482.4:c.16439A>C MANE Select	NP_003473.3:p.Asn5480Thr