Canonical Allele Identifier: CA384677487

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2636226
• ClinVar RCV Id: RCV004534385
• dbSNP Id: rs1314343736
• gnomAD v2: 12-49416399-G-A
• gnomAD v4: 12-49022616-G-A
• MyVariant Identifiers: chr12:g.49416399G>A (hg19) ; chr12:g.49022616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022616G>A , CM000674.2:g.49022616G>A	GRCh38
NC_000012.11:g.49416399G>A , CM000674.1:g.49416399G>A	GRCh37
NC_000012.10:g.47702666G>A	NCBI36
NG_027827.1:g.37709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.282C>T
ENST00000681974.1:n.984C>T
ENST00000682693.1:n.1946C>T
ENST00000682886.1:n.482C>T
ENST00000683543.2:c.16360C>T	ENSP00000506726.1:p.Arg5454Trp
ENST00000683988.1:c.283C>T	ENSP00000506939.1:p.Arg95Trp
ENST00000684428.1:c.847C>T	ENSP00000507433.1:p.Arg283Trp
ENST00000684755.1:n.895C>T
ENST00000685024.1:c.1466C>T
ENST00000685166.1:c.16321C>T	ENSP00000509386.1:p.Arg5441Trp
ENST00000688411.1:c.789C>T	ENSP00000510146.1:n.789C>T
ENST00000691932.1:c.313C>T	ENSP00000509037.1:p.Arg105Trp
ENST00000692637.1:c.16309C>T	ENSP00000509666.1:p.Arg5437Trp
ENST00000301067.12:c.16312C>T MANE Select	ENSP00000301067.7:p.Arg5438Trp
ENST00000301067.11:c.16312C>T	ENSP00000301067.7:p.Arg5438Trp
ENST00000526209.1:c.355C>T	ENSP00000435714.1:p.Arg119Trp
NM_003482.3:c.16312C>T	NP_003473.3:p.Arg5438Trp
XM_005269162.3:c.16312C>T	XP_005269219.1:p.Arg5438Trp
XM_006719614.2:c.16321C>T	XP_006719677.1:p.Arg5441Trp
XM_006719616.2:c.16309C>T	XP_006719679.1:p.Arg5437Trp
XM_011538770.1:c.16369C>T	XP_011537072.1:p.Arg5457Trp
XM_011538771.1:c.16366C>T	XP_011537073.1:p.Arg5456Trp
XM_011538772.1:c.16360C>T	XP_011537074.1:p.Arg5454Trp
XM_011538773.1:c.16357C>T	XP_011537075.1:p.Arg5453Trp
XM_011538774.1:c.16348C>T	XP_011537076.1:p.Arg5450Trp
XM_011538775.1:c.16303C>T	XP_011537077.1:p.Arg5435Trp
XM_011538776.1:c.16276C>T	XP_011537078.1:p.Arg5426Trp
XM_005269162.4:c.16312C>T	XP_005269219.1:p.Arg5438Trp
XM_006719614.4:c.16321C>T	XP_006719677.1:p.Arg5441Trp
XM_006719616.3:c.16309C>T	XP_006719679.1:p.Arg5437Trp
XM_011538770.2:c.16369C>T	XP_011537072.1:p.Arg5457Trp
XM_011538771.2:c.16366C>T	XP_011537073.1:p.Arg5456Trp
XM_011538772.2:c.16360C>T	XP_011537074.1:p.Arg5454Trp
XM_011538773.2:c.16357C>T	XP_011537075.1:p.Arg5453Trp
XM_011538774.2:c.16348C>T	XP_011537076.1:p.Arg5450Trp
XM_011538776.2:c.16276C>T	XP_011537078.1:p.Arg5426Trp
XR_001748874.1:n.16489C>T
NM_003482.4:c.16312C>T MANE Select	NP_003473.3:p.Arg5438Trp