Canonical Allele Identifier: CA1866667127
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs4743137
gnomAD v3: 9-97851950-C-G
gnomAD v4: 9-97851950-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851950C>G , CM000671.2:g.97851950C>G GRCh38
NC_000009.11:g.100614232C>G , CM000671.1:g.100614232C>G GRCh37
NC_000009.10:g.99654053C>G NCBI36
NG_011979.1:g.3696C>G

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+926G>C
XR_930159.1:n.218+926G>C
XR_930160.1:n.218+926G>C
XR_930161.1:n.218+926G>C
NR_147055.1:n.165+966G>C
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