Canonical Allele Identifier: CA869018803
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1207439791
gnomAD v3: 9-97851903-A-C
gnomAD v4: 9-97851903-A-C
MyVariant Identifiers: chr9:g.100614185A>C (hg19) chr9:g.97851903A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851903A>C , CM000671.2:g.97851903A>C GRCh38
NC_000009.11:g.100614185A>C , CM000671.1:g.100614185A>C GRCh37
NC_000009.10:g.99654006A>C NCBI36
NG_011979.1:g.3649A>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+973T>G
XR_930159.1:n.218+973T>G
XR_930160.1:n.218+973T>G
XR_930161.1:n.218+973T>G
NR_147055.1:n.165+1013T>G
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