Canonical Allele Identifier: CA384751452

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 521015
• ClinVar RCV Id: RCV000622445 ; RCV000760463 ; RCV000659734 ; RCV001257646 ; RCV004533293
• dbSNP Id: rs1452715535
• MyVariant Identifiers: chr12:g.49435258G>A (hg19) ; chr12:g.49041475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49041475G>A , CM000674.2:g.49041475G>A	GRCh38
NC_000012.11:g.49435258G>A , CM000674.1:g.49435258G>A	GRCh37
NC_000012.10:g.47721525G>A	NCBI36
NG_027827.1:g.18850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.6295C>T	ENSP00000506726.1:p.Arg2099Ter
ENST00000685166.1:c.6304C>T	ENSP00000509386.1:p.Arg2102Ter
ENST00000689060.1:c.347-33C>T
ENST00000689944.1:c.404C>T
ENST00000692637.1:c.6292C>T	ENSP00000509666.1:p.Arg2098Ter
ENST00000301067.12:c.6295C>T MANE Select	ENSP00000301067.7:p.Arg2099Ter
ENST00000301067.11:c.6295C>T	ENSP00000301067.7:p.Arg2099Ter
NM_003482.3:c.6295C>T	NP_003473.3:p.Arg2099Ter
XM_005269162.3:c.6295C>T	XP_005269219.1:p.Arg2099Ter
XM_006719614.2:c.6304C>T	XP_006719677.1:p.Arg2102Ter
XM_006719616.2:c.6292C>T	XP_006719679.1:p.Arg2098Ter
XM_011538770.1:c.6304C>T	XP_011537072.1:p.Arg2102Ter
XM_011538771.1:c.6301C>T	XP_011537073.1:p.Arg2101Ter
XM_011538772.1:c.6295C>T	XP_011537074.1:p.Arg2099Ter
XM_011538773.1:c.6292C>T	XP_011537075.1:p.Arg2098Ter
XM_011538774.1:c.6283C>T	XP_011537076.1:p.Arg2095Ter
XM_011538775.1:c.6304C>T	XP_011537077.1:p.Arg2102Ter
XM_011538776.1:c.6244-33C>T	XP_011537078.1:n.6244-33C>T
XR_944740.1:n.8624C>T
XM_005269162.4:c.6295C>T	XP_005269219.1:p.Arg2099Ter
XM_006719614.4:c.6304C>T	XP_006719677.1:p.Arg2102Ter
XM_006719616.3:c.6292C>T	XP_006719679.1:p.Arg2098Ter
XM_011538770.2:c.6304C>T	XP_011537072.1:p.Arg2102Ter
XM_011538771.2:c.6301C>T	XP_011537073.1:p.Arg2101Ter
XM_011538772.2:c.6295C>T	XP_011537074.1:p.Arg2099Ter
XM_011538773.2:c.6292C>T	XP_011537075.1:p.Arg2098Ter
XM_011538774.2:c.6283C>T	XP_011537076.1:p.Arg2095Ter
XM_011538776.2:c.6244-33C>T	XP_011537078.1:n.6244-33C>T
XR_001748874.1:n.7613C>T
NM_003482.4:c.6295C>T MANE Select	NP_003473.3:p.Arg2099Ter