Canonical Allele Identifier: CA384676435

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704039
• MyVariant Identifiers: chr12:g.49415922A>T (hg19) ; chr12:g.49022139A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022139A>T , CM000674.2:g.49022139A>T	GRCh38
NC_000012.11:g.49415922A>T , CM000674.1:g.49415922A>T	GRCh37
NC_000012.10:g.47702189A>T	NCBI36
NG_027827.1:g.38186T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.395T>A
ENST00000681974.1:n.1097T>A
ENST00000682693.1:n.2059T>A
ENST00000682886.1:n.831T>A
ENST00000683543.2:c.16473T>A	ENSP00000506726.1:p.His5491Gln
ENST00000683988.1:c.396T>A	ENSP00000506939.1:p.His132Gln
ENST00000684428.1:c.1018T>A	ENSP00000507433.1:n.1018T>A
ENST00000685024.1:c.1579T>A
ENST00000685166.1:c.16434T>A	ENSP00000509386.1:p.His5478Gln
ENST00000691932.1:c.426T>A	ENSP00000509037.1:p.His142Gln
ENST00000692637.1:c.16422T>A	ENSP00000509666.1:p.His5474Gln
ENST00000301067.12:c.16425T>A MANE Select	ENSP00000301067.7:p.His5475Gln
ENST00000301067.11:c.16425T>A	ENSP00000301067.7:p.His5475Gln
ENST00000526209.1:c.468T>A	ENSP00000435714.1:p.His156Gln
NM_003482.3:c.16425T>A	NP_003473.3:p.His5475Gln
XM_005269162.3:c.16425T>A	XP_005269219.1:p.His5475Gln
XM_006719614.2:c.16434T>A	XP_006719677.1:p.His5478Gln
XM_006719616.2:c.16422T>A	XP_006719679.1:p.His5474Gln
XM_011538770.1:c.16482T>A	XP_011537072.1:p.His5494Gln
XM_011538771.1:c.16479T>A	XP_011537073.1:p.His5493Gln
XM_011538772.1:c.16473T>A	XP_011537074.1:p.His5491Gln
XM_011538773.1:c.16470T>A	XP_011537075.1:p.His5490Gln
XM_011538774.1:c.16461T>A	XP_011537076.1:p.His5487Gln
XM_011538775.1:c.16416T>A	XP_011537077.1:p.His5472Gln
XM_011538776.1:c.16389T>A	XP_011537078.1:p.His5463Gln
XM_005269162.4:c.16425T>A	XP_005269219.1:p.His5475Gln
XM_006719614.4:c.16434T>A	XP_006719677.1:p.His5478Gln
XM_006719616.3:c.16422T>A	XP_006719679.1:p.His5474Gln
XM_011538770.2:c.16482T>A	XP_011537072.1:p.His5494Gln
XM_011538771.2:c.16479T>A	XP_011537073.1:p.His5493Gln
XM_011538772.2:c.16473T>A	XP_011537074.1:p.His5491Gln
XM_011538773.2:c.16470T>A	XP_011537075.1:p.His5490Gln
XM_011538774.2:c.16461T>A	XP_011537076.1:p.His5487Gln
XM_011538776.2:c.16389T>A	XP_011537078.1:p.His5463Gln
XR_001748874.1:n.16602T>A
NM_003482.4:c.16425T>A MANE Select	NP_003473.3:p.His5475Gln