Canonical Allele Identifier: CA236630259

Gene: KMT2D

Linked Data

• dbSNP Id: rs901788137
• gnomAD v2: 12-49416398-C-T
• gnomAD v4: 12-49022615-C-T
• MyVariant Identifiers: chr12:g.49416398C>T (hg19) ; chr12:g.49022615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022615C>T , CM000674.2:g.49022615C>T	GRCh38
NC_000012.11:g.49416398C>T , CM000674.1:g.49416398C>T	GRCh37
NC_000012.10:g.47702665C>T	NCBI36
NG_027827.1:g.37710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.283G>A
ENST00000681974.1:n.985G>A
ENST00000682693.1:n.1947G>A
ENST00000682886.1:n.483G>A
ENST00000683543.2:c.16361G>A	ENSP00000506726.1:p.Arg5454Gln
ENST00000683988.1:c.284G>A	ENSP00000506939.1:p.Arg95Gln
ENST00000684428.1:c.848G>A	ENSP00000507433.1:p.Arg283Gln
ENST00000684755.1:n.896G>A
ENST00000685024.1:c.1467G>A
ENST00000685166.1:c.16322G>A	ENSP00000509386.1:p.Arg5441Gln
ENST00000688411.1:c.790G>A	ENSP00000510146.1:n.790G>A
ENST00000691932.1:c.314G>A	ENSP00000509037.1:p.Arg105Gln
ENST00000692637.1:c.16310G>A	ENSP00000509666.1:p.Arg5437Gln
ENST00000301067.12:c.16313G>A MANE Select	ENSP00000301067.7:p.Arg5438Gln
ENST00000301067.11:c.16313G>A	ENSP00000301067.7:p.Arg5438Gln
ENST00000526209.1:c.356G>A	ENSP00000435714.1:p.Arg119Gln
NM_003482.3:c.16313G>A	NP_003473.3:p.Arg5438Gln
XM_005269162.3:c.16313G>A	XP_005269219.1:p.Arg5438Gln
XM_006719614.2:c.16322G>A	XP_006719677.1:p.Arg5441Gln
XM_006719616.2:c.16310G>A	XP_006719679.1:p.Arg5437Gln
XM_011538770.1:c.16370G>A	XP_011537072.1:p.Arg5457Gln
XM_011538771.1:c.16367G>A	XP_011537073.1:p.Arg5456Gln
XM_011538772.1:c.16361G>A	XP_011537074.1:p.Arg5454Gln
XM_011538773.1:c.16358G>A	XP_011537075.1:p.Arg5453Gln
XM_011538774.1:c.16349G>A	XP_011537076.1:p.Arg5450Gln
XM_011538775.1:c.16304G>A	XP_011537077.1:p.Arg5435Gln
XM_011538776.1:c.16277G>A	XP_011537078.1:p.Arg5426Gln
XM_005269162.4:c.16313G>A	XP_005269219.1:p.Arg5438Gln
XM_006719614.4:c.16322G>A	XP_006719677.1:p.Arg5441Gln
XM_006719616.3:c.16310G>A	XP_006719679.1:p.Arg5437Gln
XM_011538770.2:c.16370G>A	XP_011537072.1:p.Arg5457Gln
XM_011538771.2:c.16367G>A	XP_011537073.1:p.Arg5456Gln
XM_011538772.2:c.16361G>A	XP_011537074.1:p.Arg5454Gln
XM_011538773.2:c.16358G>A	XP_011537075.1:p.Arg5453Gln
XM_011538774.2:c.16349G>A	XP_011537076.1:p.Arg5450Gln
XM_011538776.2:c.16277G>A	XP_011537078.1:p.Arg5426Gln
XR_001748874.1:n.16490G>A
NM_003482.4:c.16313G>A MANE Select	NP_003473.3:p.Arg5438Gln