Canonical Allele Identifier: CA6547380

Gene: KMT2D

Linked Data

• dbSNP Id: rs374058154
• ExAC: 12:49435908 T / C
• gnomAD v2: 12-49435908-T-C
• MyVariant Identifiers: chr12:g.49435908T>C (hg19) ; chr12:g.49042125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042125T>C , CM000674.2:g.49042125T>C	GRCh38
NC_000012.11:g.49435908T>C , CM000674.1:g.49435908T>C	GRCh37
NC_000012.10:g.47722175T>C	NCBI36
NG_027827.1:g.18200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.864A>G
ENST00000683543.2:c.6073A>G	ENSP00000506726.1:p.Asn2025Asp
ENST00000685166.1:c.6082A>G	ENSP00000509386.1:p.Asn2028Asp
ENST00000689060.1:c.185A>G
ENST00000689944.1:c.185A>G
ENST00000692637.1:c.6070A>G	ENSP00000509666.1:p.Asn2024Asp
ENST00000301067.12:c.6073A>G MANE Select	ENSP00000301067.7:p.Asn2025Asp
ENST00000301067.11:c.6073A>G	ENSP00000301067.7:p.Asn2025Asp
NM_003482.3:c.6073A>G	NP_003473.3:p.Asn2025Asp
XM_005269162.3:c.6073A>G	XP_005269219.1:p.Asn2025Asp
XM_006719614.2:c.6082A>G	XP_006719677.1:p.Asn2028Asp
XM_006719616.2:c.6070A>G	XP_006719679.1:p.Asn2024Asp
XM_011538770.1:c.6082A>G	XP_011537072.1:p.Asn2028Asp
XM_011538771.1:c.6079A>G	XP_011537073.1:p.Asn2027Asp
XM_011538772.1:c.6073A>G	XP_011537074.1:p.Asn2025Asp
XM_011538773.1:c.6070A>G	XP_011537075.1:p.Asn2024Asp
XM_011538774.1:c.6061A>G	XP_011537076.1:p.Asn2021Asp
XM_011538775.1:c.6082A>G	XP_011537077.1:p.Asn2028Asp
XM_011538776.1:c.6082A>G	XP_011537078.1:p.Asn2028Asp
XR_944740.1:n.8402A>G
XM_005269162.4:c.6073A>G	XP_005269219.1:p.Asn2025Asp
XM_006719614.4:c.6082A>G	XP_006719677.1:p.Asn2028Asp
XM_006719616.3:c.6070A>G	XP_006719679.1:p.Asn2024Asp
XM_011538770.2:c.6082A>G	XP_011537072.1:p.Asn2028Asp
XM_011538771.2:c.6079A>G	XP_011537073.1:p.Asn2027Asp
XM_011538772.2:c.6073A>G	XP_011537074.1:p.Asn2025Asp
XM_011538773.2:c.6070A>G	XP_011537075.1:p.Asn2024Asp
XM_011538774.2:c.6061A>G	XP_011537076.1:p.Asn2021Asp
XM_011538776.2:c.6082A>G	XP_011537078.1:p.Asn2028Asp
XR_001748874.1:n.7391A>G
NM_003482.4:c.6073A>G MANE Select	NP_003473.3:p.Asn2025Asp