Canonical Allele Identifier: CA1127208072

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1587807048
• gnomAD v3: 9-97851928-A-G
• gnomAD v4: 9-97851928-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851928A>G , CM000671.2:g.97851928A>G	GRCh38
NC_000009.11:g.100614210A>G , CM000671.1:g.100614210A>G	GRCh37
NC_000009.10:g.99654031A>G	NCBI36
NG_011979.1:g.3674A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+948T>C
XR_930159.1:n.218+948T>C
XR_930160.1:n.218+948T>C
XR_930161.1:n.218+948T>C
NR_147055.1:n.165+988T>C