Canonical Allele Identifier: CA6545366

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2894958
• ClinVar RCV Id: RCV003753036
• dbSNP Id: rs757630906
• ExAC: 12:49415886 T / C
• gnomAD v2: 12-49415886-T-C
• gnomAD v3: 12-49022103-T-C
• gnomAD v4: 12-49022103-T-C
• MyVariant Identifiers: chr12:g.49415886T>C (hg19) ; chr12:g.49022103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022103T>C , CM000674.2:g.49022103T>C	GRCh38
NC_000012.11:g.49415886T>C , CM000674.1:g.49415886T>C	GRCh37
NC_000012.10:g.47702153T>C	NCBI36
NG_027827.1:g.38222A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.431A>G
ENST00000681974.1:n.1133A>G
ENST00000682693.1:n.2095A>G
ENST00000682886.1:n.867A>G
ENST00000683543.2:c.16509A>G	ENSP00000506726.1:p.Thr5503=
ENST00000683988.1:c.432A>G	ENSP00000506939.1:p.Thr144=
ENST00000684428.1:c.1054A>G	ENSP00000507433.1:n.1054A>G
ENST00000685024.1:c.1615A>G
ENST00000685166.1:c.16470A>G	ENSP00000509386.1:p.Thr5490=
ENST00000691932.1:c.462A>G	ENSP00000509037.1:p.Thr154=
ENST00000692637.1:c.16458A>G	ENSP00000509666.1:p.Thr5486=
ENST00000301067.12:c.16461A>G MANE Select	ENSP00000301067.7:p.Thr5487=
ENST00000301067.11:c.16461A>G	ENSP00000301067.7:p.Thr5487=
ENST00000526209.1:c.504A>G	ENSP00000435714.1:p.Thr168=
NM_003482.3:c.16461A>G	NP_003473.3:p.Thr5487=
XM_005269162.3:c.16461A>G	XP_005269219.1:p.Thr5487=
XM_006719614.2:c.16470A>G	XP_006719677.1:p.Thr5490=
XM_006719616.2:c.16458A>G	XP_006719679.1:p.Thr5486=
XM_011538770.1:c.16518A>G	XP_011537072.1:p.Thr5506=
XM_011538771.1:c.16515A>G	XP_011537073.1:p.Thr5505=
XM_011538772.1:c.16509A>G	XP_011537074.1:p.Thr5503=
XM_011538773.1:c.16506A>G	XP_011537075.1:p.Thr5502=
XM_011538774.1:c.16497A>G	XP_011537076.1:p.Thr5499=
XM_011538775.1:c.16452A>G	XP_011537077.1:p.Thr5484=
XM_011538776.1:c.16425A>G	XP_011537078.1:p.Thr5475=
XM_005269162.4:c.16461A>G	XP_005269219.1:p.Thr5487=
XM_006719614.4:c.16470A>G	XP_006719677.1:p.Thr5490=
XM_006719616.3:c.16458A>G	XP_006719679.1:p.Thr5486=
XM_011538770.2:c.16518A>G	XP_011537072.1:p.Thr5506=
XM_011538771.2:c.16515A>G	XP_011537073.1:p.Thr5505=
XM_011538772.2:c.16509A>G	XP_011537074.1:p.Thr5503=
XM_011538773.2:c.16506A>G	XP_011537075.1:p.Thr5502=
XM_011538774.2:c.16497A>G	XP_011537076.1:p.Thr5499=
XM_011538776.2:c.16425A>G	XP_011537078.1:p.Thr5475=
XR_001748874.1:n.16638A>G
NM_003482.4:c.16461A>G MANE Select	NP_003473.3:p.Thr5487=