Canonical Allele Identifier: CA2600571242

Gene: PTCSC2

Linked Data

• dbSNP Id: rs2131483249
• gnomAD v3: 9-97851626-T-C
• gnomAD v4: 9-97851626-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851626T>C , CM000671.2:g.97851626T>C	GRCh38
NC_000009.11:g.100613908T>C , CM000671.1:g.100613908T>C	GRCh37
NC_000009.10:g.99653729T>C	NCBI36
NG_011979.1:g.3372T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1250A>G
XR_930159.1:n.218+1250A>G
XR_930160.1:n.218+1250A>G
XR_930161.1:n.218+1250A>G
NR_147055.1:n.165+1290A>G