Canonical Allele Identifier: CA197059170
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs186577916
gnomAD v2: 9-100615132-C-T
gnomAD v3: 9-97852850-C-T
gnomAD v4: 9-97852850-C-T
MyVariant Identifiers: chr9:g.100615132C>T (hg19) chr9:g.97852850C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852850C>T , CM000671.2:g.97852850C>T GRCh38
NC_000009.11:g.100615132C>T , CM000671.1:g.100615132C>T GRCh37
NC_000009.10:g.99654953C>T NCBI36
NG_011979.1:g.4596C>T

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+26G>A
XR_930159.1:n.218+26G>A
XR_930160.1:n.218+26G>A
XR_930161.1:n.218+26G>A
NR_147055.1:n.165+66G>A
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