Canonical Allele Identifier: CA384681402

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1690496
• ClinVar RCV Id: RCV002252914
• dbSNP Id: rs1201302456
• gnomAD v2: 12-49418412-T-C
• gnomAD v3: 12-49024629-T-C
• gnomAD v4: 12-49024629-T-C
• MyVariant Identifiers: chr12:g.49418412T>C (hg19) ; chr12:g.49024629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024629T>C , CM000674.2:g.49024629T>C	GRCh38
NC_000012.11:g.49418412T>C , CM000674.1:g.49418412T>C	GRCh37
NC_000012.10:g.47704679T>C	NCBI36
NG_027827.1:g.35696A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.673A>G
ENST00000683543.2:c.16001A>G	ENSP00000506726.1:p.Asn5334Ser
ENST00000683863.1:n.1716A>G
ENST00000684428.1:c.536A>G	ENSP00000507433.1:p.Asn179Ser
ENST00000684755.1:n.536A>G
ENST00000685024.1:c.1155A>G
ENST00000685166.1:c.16010A>G	ENSP00000509386.1:p.Asn5337Ser
ENST00000688411.1:c.478A>G	ENSP00000510146.1:n.478A>G
ENST00000691932.1:c.80A>G	ENSP00000509037.1:p.Asn27Ser
ENST00000692637.1:c.15998A>G	ENSP00000509666.1:p.Asn5333Ser
ENST00000301067.12:c.16001A>G MANE Select	ENSP00000301067.7:p.Asn5334Ser
ENST00000301067.11:c.16001A>G	ENSP00000301067.7:p.Asn5334Ser
NM_003482.3:c.16001A>G	NP_003473.3:p.Asn5334Ser
XM_005269162.3:c.16001A>G	XP_005269219.1:p.Asn5334Ser
XM_006719614.2:c.16010A>G	XP_006719677.1:p.Asn5337Ser
XM_006719616.2:c.15998A>G	XP_006719679.1:p.Asn5333Ser
XM_011538770.1:c.16010A>G	XP_011537072.1:p.Asn5337Ser
XM_011538771.1:c.16007A>G	XP_011537073.1:p.Asn5336Ser
XM_011538772.1:c.16001A>G	XP_011537074.1:p.Asn5334Ser
XM_011538773.1:c.15998A>G	XP_011537075.1:p.Asn5333Ser
XM_011538774.1:c.15989A>G	XP_011537076.1:p.Asn5330Ser
XM_011538775.1:c.15944A>G	XP_011537077.1:p.Asn5315Ser
XM_011538776.1:c.15917A>G	XP_011537078.1:p.Asn5306Ser
XM_005269162.4:c.16001A>G	XP_005269219.1:p.Asn5334Ser
XM_006719614.4:c.16010A>G	XP_006719677.1:p.Asn5337Ser
XM_006719616.3:c.15998A>G	XP_006719679.1:p.Asn5333Ser
XM_011538770.2:c.16010A>G	XP_011537072.1:p.Asn5337Ser
XM_011538771.2:c.16007A>G	XP_011537073.1:p.Asn5336Ser
XM_011538772.2:c.16001A>G	XP_011537074.1:p.Asn5334Ser
XM_011538773.2:c.15998A>G	XP_011537075.1:p.Asn5333Ser
XM_011538774.2:c.15989A>G	XP_011537076.1:p.Asn5330Ser
XM_011538776.2:c.15917A>G	XP_011537078.1:p.Asn5306Ser
XR_001748874.1:n.16178A>G
NM_003482.4:c.16001A>G MANE Select	NP_003473.3:p.Asn5334Ser