Canonical Allele Identifier: CA12994265
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs907577
gnomAD v3: 9-97852835-C-T
gnomAD v4: 9-97852835-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852835C>T , CM000671.2:g.97852835C>T GRCh38
NC_000009.11:g.100615117C>T , CM000671.1:g.100615117C>T GRCh37
NC_000009.10:g.99654938C>T NCBI36
NG_011979.1:g.4581C>T

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+41G>A
XR_930159.1:n.218+41G>A
XR_930160.1:n.218+41G>A
XR_930161.1:n.218+41G>A
NR_147055.1:n.165+81G>A