Canonical Allele Identifier: CA589532800
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1317531569
gnomAD v2: 9-100614107-G-C
gnomAD v3: 9-97851825-G-C
gnomAD v4: 9-97851825-G-C
MyVariant Identifiers: chr9:g.100614107G>C (hg19) chr9:g.97851825G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851825G>C , CM000671.2:g.97851825G>C GRCh38
NC_000009.11:g.100614107G>C , CM000671.1:g.100614107G>C GRCh37
NC_000009.10:g.99653928G>C NCBI36
NG_011979.1:g.3571G>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1051C>G
XR_930159.1:n.218+1051C>G
XR_930160.1:n.218+1051C>G
XR_930161.1:n.218+1051C>G
NR_147055.1:n.165+1091C>G
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