Canonical Allele Identifier: CA589533076
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1474511849
gnomAD v2: 9-100615139-C-G
gnomAD v3: 9-97852857-C-G
gnomAD v4: 9-97852857-C-G
MyVariant Identifiers: chr9:g.100615139C>G (hg19) chr9:g.97852857C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852857C>G , CM000671.2:g.97852857C>G GRCh38
NC_000009.11:g.100615139C>G , CM000671.1:g.100615139C>G GRCh37
NC_000009.10:g.99654960C>G NCBI36
NG_011979.1:g.4603C>G

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+19G>C
XR_930159.1:n.218+19G>C
XR_930160.1:n.218+19G>C
XR_930161.1:n.218+19G>C
NR_147055.1:n.165+59G>C
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