Canonical Allele Identifier: CA234187

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 167231
• ClinVar RCV Id: RCV000153422 ; RCV002514956 ; RCV004544396
• dbSNP Id: rs534236560
• ExAC: 12:49445978 C / T
• gnomAD v2: 12-49445978-C-T
• gnomAD v3: 12-49052195-C-T
• gnomAD v4: 12-49052195-C-T
• MyVariant Identifiers: chr12:g.49445978C>T (hg19) ; chr12:g.49052195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49052195C>T , CM000674.2:g.49052195C>T	GRCh38
NC_000012.11:g.49445978C>T , CM000674.1:g.49445978C>T	GRCh37
NC_000012.10:g.47732245C>T	NCBI36
NG_027827.1:g.8130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.1488G>A	ENSP00000506726.1:p.Pro496=
ENST00000685166.1:c.1488G>A	ENSP00000509386.1:p.Pro496=
ENST00000692637.1:c.1488G>A	ENSP00000509666.1:p.Pro496=
ENST00000301067.12:c.1488G>A MANE Select	ENSP00000301067.7:p.Pro496=
ENST00000301067.11:c.1488G>A	ENSP00000301067.7:p.Pro496=
NM_003482.3:c.1488G>A	NP_003473.3:p.Pro496=
XM_005269162.3:c.1488G>A	XP_005269219.1:p.Pro496=
XM_006719614.2:c.1488G>A	XP_006719677.1:p.Pro496=
XM_006719616.2:c.1488G>A	XP_006719679.1:p.Pro496=
XM_011538770.1:c.1488G>A	XP_011537072.1:p.Pro496=
XM_011538771.1:c.1488G>A	XP_011537073.1:p.Pro496=
XM_011538772.1:c.1488G>A	XP_011537074.1:p.Pro496=
XM_011538773.1:c.1488G>A	XP_011537075.1:p.Pro496=
XM_011538774.1:c.1488G>A	XP_011537076.1:p.Pro496=
XM_011538775.1:c.1488G>A	XP_011537077.1:p.Pro496=
XM_011538776.1:c.1488G>A	XP_011537078.1:p.Pro496=
XR_944740.1:n.3808G>A
XM_005269162.4:c.1488G>A	XP_005269219.1:p.Pro496=
XM_006719614.4:c.1488G>A	XP_006719677.1:p.Pro496=
XM_006719616.3:c.1488G>A	XP_006719679.1:p.Pro496=
XM_011538770.2:c.1488G>A	XP_011537072.1:p.Pro496=
XM_011538771.2:c.1488G>A	XP_011537073.1:p.Pro496=
XM_011538772.2:c.1488G>A	XP_011537074.1:p.Pro496=
XM_011538773.2:c.1488G>A	XP_011537075.1:p.Pro496=
XM_011538774.2:c.1488G>A	XP_011537076.1:p.Pro496=
XM_011538776.2:c.1488G>A	XP_011537078.1:p.Pro496=
XR_001748874.1:n.2797G>A
NM_003482.4:c.1488G>A MANE Select	NP_003473.3:p.Pro496=