Canonical Allele Identifier: CA2720199631
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830603407

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852597C>G , CM000671.2:g.97852597C>G GRCh38
NC_000009.11:g.100614879C>G , CM000671.1:g.100614879C>G GRCh37
NC_000009.10:g.99654700C>G NCBI36
NG_011979.1:g.4343C>G

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+279G>C
XR_930159.1:n.218+279G>C
XR_930160.1:n.218+279G>C
XR_930161.1:n.218+279G>C
NR_147055.1:n.165+319G>C