Canonical Allele Identifier: CA384703158

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1503919
• ClinVar RCV Id: RCV002025808
• dbSNP Id: rs2120410953
• MyVariant Identifiers: chr12:g.49424692A>G (hg19) ; chr12:g.49030909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030909A>G , CM000674.2:g.49030909A>G	GRCh38
NC_000012.11:g.49424692A>G , CM000674.1:g.49424692A>G	GRCh37
NC_000012.10:g.47710959A>G	NCBI36
NG_027827.1:g.29416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.355T>C
ENST00000683543.2:c.13655T>C	ENSP00000506726.1:p.Leu4552Pro
ENST00000685166.1:c.13664T>C	ENSP00000509386.1:p.Leu4555Pro
ENST00000685982.1:c.139-141T>C	ENSP00000508613.1:n.139-141T>C
ENST00000691986.1:c.138+266T>C	ENSP00000509196.1:n.138+266T>C
ENST00000692637.1:c.13652T>C	ENSP00000509666.1:p.Leu4551Pro
ENST00000692973.1:c.256T>C	ENSP00000508893.1:n.256T>C
ENST00000301067.12:c.13655T>C MANE Select	ENSP00000301067.7:p.Leu4552Pro
ENST00000301067.11:c.13655T>C	ENSP00000301067.7:p.Leu4552Pro
ENST00000552391.1:n.355T>C
NM_003482.3:c.13655T>C	NP_003473.3:p.Leu4552Pro
XM_005269162.3:c.13655T>C	XP_005269219.1:p.Leu4552Pro
XM_006719614.2:c.13664T>C	XP_006719677.1:p.Leu4555Pro
XM_006719616.2:c.13652T>C	XP_006719679.1:p.Leu4551Pro
XM_011538770.1:c.13664T>C	XP_011537072.1:p.Leu4555Pro
XM_011538771.1:c.13661T>C	XP_011537073.1:p.Leu4554Pro
XM_011538772.1:c.13655T>C	XP_011537074.1:p.Leu4552Pro
XM_011538773.1:c.13652T>C	XP_011537075.1:p.Leu4551Pro
XM_011538774.1:c.13643T>C	XP_011537076.1:p.Leu4548Pro
XM_011538775.1:c.13664T>C	XP_011537077.1:p.Leu4555Pro
XM_011538776.1:c.13571T>C	XP_011537078.1:p.Leu4524Pro
XR_944740.1:n.15984T>C
XM_005269162.4:c.13655T>C	XP_005269219.1:p.Leu4552Pro
XM_006719614.4:c.13664T>C	XP_006719677.1:p.Leu4555Pro
XM_006719616.3:c.13652T>C	XP_006719679.1:p.Leu4551Pro
XM_011538770.2:c.13664T>C	XP_011537072.1:p.Leu4555Pro
XM_011538771.2:c.13661T>C	XP_011537073.1:p.Leu4554Pro
XM_011538772.2:c.13655T>C	XP_011537074.1:p.Leu4552Pro
XM_011538773.2:c.13652T>C	XP_011537075.1:p.Leu4551Pro
XM_011538774.2:c.13643T>C	XP_011537076.1:p.Leu4548Pro
XM_011538776.2:c.13571T>C	XP_011537078.1:p.Leu4524Pro
XR_001748874.1:n.14973T>C
NM_003482.4:c.13655T>C MANE Select	NP_003473.3:p.Leu4552Pro