Canonical Allele Identifier: CA1866666587
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830586364

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851624T>C , CM000671.2:g.97851624T>C GRCh38
NC_000009.11:g.100613906T>C , CM000671.1:g.100613906T>C GRCh37
NC_000009.10:g.99653727T>C NCBI36
NG_011979.1:g.3370T>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1252A>G
XR_930159.1:n.218+1252A>G
XR_930160.1:n.218+1252A>G
XR_930161.1:n.218+1252A>G
NR_147055.1:n.165+1292A>G