Canonical Allele Identifier: CA16127118
Gene: IGFBP-AS1 HGNC NCBI
dbSNP:
6435957
gnomAD v2:
2:217878209 T / C
gnomAD v3:
2:217013486 T / C
gnomAD v4:
chr2-217013486-T-C
Joint Max Group AF 0.86465027 (EAS)
Genomes Max Group AF 0.86465027 (EAS)
MyVariant.info:
GRCh38 chr2:g.217013486T>C
GRCh37 chr2:g.217878209T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.217013486T>C , CM000664.2:g.217013486T>C GRCh38
NC_000002.11:g.217878209T>C , CM000664.1:g.217878209T>C GRCh37
NC_000002.10:g.217586454T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923881.1:n.299+19468T>C
XR_923883.1:n.294+19468T>C
XR_923885.1:n.862+19468T>C
XR_923886.1:n.358+12381T>C
XR_923887.1:n.299+19468T>C
XR_001739169.1:n.11844+19468T>C
XR_001739170.2:n.8480+19468T>C
XR_001739171.2:n.8347+19468T>C
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