Canonical Allele Identifier: CA2600571244

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1000974612
• gnomAD v3: 9-97851658-G-C
• gnomAD v4: 9-97851658-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851658G>C , CM000671.2:g.97851658G>C	GRCh38
NC_000009.11:g.100613940G>C , CM000671.1:g.100613940G>C	GRCh37
NC_000009.10:g.99653761G>C	NCBI36
NG_011979.1:g.3404G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1218C>G
XR_930159.1:n.218+1218C>G
XR_930160.1:n.218+1218C>G
XR_930161.1:n.218+1218C>G
NR_147055.1:n.165+1258C>G