Canonical Allele Identifier: CA6409034
Gene: NCAPD2 HGNC NCBI
COSMIC:
COSM1747202 (not active)
MyVariant.info:
GRCh38 chr12:g.6528679T>C
GRCh37 chr12:g.6637845T>C
gnomAD v2:
12:6637845 T / C
gnomAD v3:
12:6528679 T / C
gnomAD v4:
chr12-6528679-T-C
Joint Max Group AF 0.94325329 (AFR)
Genomes Max Group AF 0.93648521 (AFR)
Exomes Max Group AF 0.94627572 (AFR)
ClinVar RCV:
RCV001779939
ClinVar Variation:
1321846
dbSNP:
2072374
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6528679T>C , CM000674.2:g.6528679T>C GRCh38
NC_000012.11:g.6637845T>C , CM000674.1:g.6637845T>C GRCh37
NC_000012.10:g.6508106T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000315579.10:c.3300T>C MANE Select ENSP00000325017.5:p.Arg1100=
ENST00000315579.9:c.3300T>C ENSP00000325017.5:p.Arg1100=
ENST00000535804.1:n.133T>C
ENST00000539084.5:c.*2995T>C ENSP00000438495.1:n.*2995T>C
NM_014865.3:c.3300T>C NP_055680.3:p.Arg1100=
NM_014865.4:c.3300T>C MANE Select NP_055680.3:p.Arg1100=
Search 100 bp 5'
Search 100 bp 3'