Canonical Allele Identifier: CA384677476

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942384389
• gnomAD v4: 12-49022612-C-T
• MyVariant Identifiers: chr12:g.49416395C>T (hg19) ; chr12:g.49022612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022612C>T , CM000674.2:g.49022612C>T	GRCh38
NC_000012.11:g.49416395C>T , CM000674.1:g.49416395C>T	GRCh37
NC_000012.10:g.47702662C>T	NCBI36
NG_027827.1:g.37713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.286G>A
ENST00000681974.1:n.988G>A
ENST00000682693.1:n.1950G>A
ENST00000682886.1:n.486G>A
ENST00000683543.2:c.16364G>A	ENSP00000506726.1:p.Arg5455Gln
ENST00000683988.1:c.287G>A	ENSP00000506939.1:p.Arg96Gln
ENST00000684428.1:c.851G>A	ENSP00000507433.1:p.Arg284Gln
ENST00000684755.1:n.899G>A
ENST00000685024.1:c.1470G>A
ENST00000685166.1:c.16325G>A	ENSP00000509386.1:p.Arg5442Gln
ENST00000688411.1:c.793G>A	ENSP00000510146.1:n.793G>A
ENST00000691932.1:c.317G>A	ENSP00000509037.1:p.Arg106Gln
ENST00000692637.1:c.16313G>A	ENSP00000509666.1:p.Arg5438Gln
ENST00000301067.12:c.16316G>A MANE Select	ENSP00000301067.7:p.Arg5439Gln
ENST00000301067.11:c.16316G>A	ENSP00000301067.7:p.Arg5439Gln
ENST00000526209.1:c.359G>A	ENSP00000435714.1:p.Arg120Gln
NM_003482.3:c.16316G>A	NP_003473.3:p.Arg5439Gln
XM_005269162.3:c.16316G>A	XP_005269219.1:p.Arg5439Gln
XM_006719614.2:c.16325G>A	XP_006719677.1:p.Arg5442Gln
XM_006719616.2:c.16313G>A	XP_006719679.1:p.Arg5438Gln
XM_011538770.1:c.16373G>A	XP_011537072.1:p.Arg5458Gln
XM_011538771.1:c.16370G>A	XP_011537073.1:p.Arg5457Gln
XM_011538772.1:c.16364G>A	XP_011537074.1:p.Arg5455Gln
XM_011538773.1:c.16361G>A	XP_011537075.1:p.Arg5454Gln
XM_011538774.1:c.16352G>A	XP_011537076.1:p.Arg5451Gln
XM_011538775.1:c.16307G>A	XP_011537077.1:p.Arg5436Gln
XM_011538776.1:c.16280G>A	XP_011537078.1:p.Arg5427Gln
XM_005269162.4:c.16316G>A	XP_005269219.1:p.Arg5439Gln
XM_006719614.4:c.16325G>A	XP_006719677.1:p.Arg5442Gln
XM_006719616.3:c.16313G>A	XP_006719679.1:p.Arg5438Gln
XM_011538770.2:c.16373G>A	XP_011537072.1:p.Arg5458Gln
XM_011538771.2:c.16370G>A	XP_011537073.1:p.Arg5457Gln
XM_011538772.2:c.16364G>A	XP_011537074.1:p.Arg5455Gln
XM_011538773.2:c.16361G>A	XP_011537075.1:p.Arg5454Gln
XM_011538774.2:c.16352G>A	XP_011537076.1:p.Arg5451Gln
XM_011538776.2:c.16280G>A	XP_011537078.1:p.Arg5427Gln
XR_001748874.1:n.16493G>A
NM_003482.4:c.16316G>A MANE Select	NP_003473.3:p.Arg5439Gln