Canonical Allele Identifier: CA384677522

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416402T>G (hg19) ; chr12:g.49022619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022619T>G , CM000674.2:g.49022619T>G	GRCh38
NC_000012.11:g.49416402T>G , CM000674.1:g.49416402T>G	GRCh37
NC_000012.10:g.47702669T>G	NCBI36
NG_027827.1:g.37706A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.279A>C
ENST00000681974.1:n.981A>C
ENST00000682693.1:n.1943A>C
ENST00000682886.1:n.479A>C
ENST00000683543.2:c.16357A>C	ENSP00000506726.1:p.Asn5453His
ENST00000683988.1:c.280A>C	ENSP00000506939.1:p.Asn94His
ENST00000684428.1:c.844A>C	ENSP00000507433.1:p.Asn282His
ENST00000684755.1:n.892A>C
ENST00000685024.1:c.1463A>C
ENST00000685166.1:c.16318A>C	ENSP00000509386.1:p.Asn5440His
ENST00000688411.1:c.786A>C	ENSP00000510146.1:n.786A>C
ENST00000691932.1:c.310A>C	ENSP00000509037.1:p.Asn104His
ENST00000692637.1:c.16306A>C	ENSP00000509666.1:p.Asn5436His
ENST00000301067.12:c.16309A>C MANE Select	ENSP00000301067.7:p.Asn5437His
ENST00000301067.11:c.16309A>C	ENSP00000301067.7:p.Asn5437His
ENST00000526209.1:c.352A>C	ENSP00000435714.1:p.Asn118His
NM_003482.3:c.16309A>C	NP_003473.3:p.Asn5437His
XM_005269162.3:c.16309A>C	XP_005269219.1:p.Asn5437His
XM_006719614.2:c.16318A>C	XP_006719677.1:p.Asn5440His
XM_006719616.2:c.16306A>C	XP_006719679.1:p.Asn5436His
XM_011538770.1:c.16366A>C	XP_011537072.1:p.Asn5456His
XM_011538771.1:c.16363A>C	XP_011537073.1:p.Asn5455His
XM_011538772.1:c.16357A>C	XP_011537074.1:p.Asn5453His
XM_011538773.1:c.16354A>C	XP_011537075.1:p.Asn5452His
XM_011538774.1:c.16345A>C	XP_011537076.1:p.Asn5449His
XM_011538775.1:c.16300A>C	XP_011537077.1:p.Asn5434His
XM_011538776.1:c.16273A>C	XP_011537078.1:p.Asn5425His
XM_005269162.4:c.16309A>C	XP_005269219.1:p.Asn5437His
XM_006719614.4:c.16318A>C	XP_006719677.1:p.Asn5440His
XM_006719616.3:c.16306A>C	XP_006719679.1:p.Asn5436His
XM_011538770.2:c.16366A>C	XP_011537072.1:p.Asn5456His
XM_011538771.2:c.16363A>C	XP_011537073.1:p.Asn5455His
XM_011538772.2:c.16357A>C	XP_011537074.1:p.Asn5453His
XM_011538773.2:c.16354A>C	XP_011537075.1:p.Asn5452His
XM_011538774.2:c.16345A>C	XP_011537076.1:p.Asn5449His
XM_011538776.2:c.16273A>C	XP_011537078.1:p.Asn5425His
XR_001748874.1:n.16486A>C
NM_003482.4:c.16309A>C MANE Select	NP_003473.3:p.Asn5437His