Canonical Allele Identifier: CA254200

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 7538
• ClinVar RCV Id: RCV000007974 ; RCV001265824 ; RCV003147277 ; RCV003588558
• dbSNP Id: rs267607239
• COSMIC: COSM302644 ; COSM302645
• MyVariant Identifiers: chr12:g.49416115G>A (hg19) ; chr12:g.49022332G>A (hg38)
• PubMed: PMID:20711175

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022332G>A , CM000674.2:g.49022332G>A	GRCh38
NC_000012.11:g.49416115G>A , CM000674.1:g.49416115G>A	GRCh37
NC_000012.10:g.47702382G>A	NCBI36
NG_027827.1:g.37993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.330C>T
ENST00000681974.1:n.1032C>T
ENST00000682693.1:n.1994C>T
ENST00000682886.1:n.766C>T
ENST00000683543.2:c.16408C>T	ENSP00000506726.1:p.Arg5470Ter
ENST00000683988.1:c.331C>T	ENSP00000506939.1:p.Arg111Ter
ENST00000684428.1:c.953C>T	ENSP00000507433.1:p.Pro318Leu
ENST00000685024.1:c.1514C>T
ENST00000685166.1:c.16369C>T	ENSP00000509386.1:p.Arg5457Ter
ENST00000691932.1:c.361C>T	ENSP00000509037.1:p.Arg121Ter
ENST00000692637.1:c.16357C>T	ENSP00000509666.1:p.Arg5453Ter
ENST00000301067.12:c.16360C>T MANE Select	ENSP00000301067.7:p.Arg5454Ter
ENST00000301067.11:c.16360C>T	ENSP00000301067.7:p.Arg5454Ter
ENST00000526209.1:c.403C>T	ENSP00000435714.1:p.Arg135Ter
NM_003482.3:c.16360C>T	NP_003473.3:p.Arg5454Ter
XM_005269162.3:c.16360C>T	XP_005269219.1:p.Arg5454Ter
XM_006719614.2:c.16369C>T	XP_006719677.1:p.Arg5457Ter
XM_006719616.2:c.16357C>T	XP_006719679.1:p.Arg5453Ter
XM_011538770.1:c.16417C>T	XP_011537072.1:p.Arg5473Ter
XM_011538771.1:c.16414C>T	XP_011537073.1:p.Arg5472Ter
XM_011538772.1:c.16408C>T	XP_011537074.1:p.Arg5470Ter
XM_011538773.1:c.16405C>T	XP_011537075.1:p.Arg5469Ter
XM_011538774.1:c.16396C>T	XP_011537076.1:p.Arg5466Ter
XM_011538775.1:c.16351C>T	XP_011537077.1:p.Arg5451Ter
XM_011538776.1:c.16324C>T	XP_011537078.1:p.Arg5442Ter
XM_005269162.4:c.16360C>T	XP_005269219.1:p.Arg5454Ter
XM_006719614.4:c.16369C>T	XP_006719677.1:p.Arg5457Ter
XM_006719616.3:c.16357C>T	XP_006719679.1:p.Arg5453Ter
XM_011538770.2:c.16417C>T	XP_011537072.1:p.Arg5473Ter
XM_011538771.2:c.16414C>T	XP_011537073.1:p.Arg5472Ter
XM_011538772.2:c.16408C>T	XP_011537074.1:p.Arg5470Ter
XM_011538773.2:c.16405C>T	XP_011537075.1:p.Arg5469Ter
XM_011538774.2:c.16396C>T	XP_011537076.1:p.Arg5466Ter
XM_011538776.2:c.16324C>T	XP_011537078.1:p.Arg5442Ter
XR_001748874.1:n.16537C>T
NM_003482.4:c.16360C>T MANE Select	NP_003473.3:p.Arg5454Ter