Canonical Allele Identifier: CA1127208008

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1830591749
• gnomAD v3: 9-97851917-T-C
• gnomAD v4: 9-97851917-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851917T>C , CM000671.2:g.97851917T>C	GRCh38
NC_000009.11:g.100614199T>C , CM000671.1:g.100614199T>C	GRCh37
NC_000009.10:g.99654020T>C	NCBI36
NG_011979.1:g.3663T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+959A>G
XR_930159.1:n.218+959A>G
XR_930160.1:n.218+959A>G
XR_930161.1:n.218+959A>G
NR_147055.1:n.165+999A>G