Canonical Allele Identifier: CA869018679
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1222696654

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851655T>C , CM000671.2:g.97851655T>C GRCh38
NC_000009.11:g.100613937T>C , CM000671.1:g.100613937T>C GRCh37
NC_000009.10:g.99653758T>C NCBI36
NG_011979.1:g.3401T>C

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1221A>G
XR_930159.1:n.218+1221A>G
XR_930160.1:n.218+1221A>G
XR_930161.1:n.218+1221A>G
NR_147055.1:n.165+1261A>G