Canonical Allele Identifier: CA869018685

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1288118878
• gnomAD v3: 9-97851667-A-G
• gnomAD v4: 9-97851667-A-G
• MyVariant Identifiers: chr9:g.100613949A>G (hg19) ; chr9:g.97851667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851667A>G , CM000671.2:g.97851667A>G	GRCh38
NC_000009.11:g.100613949A>G , CM000671.1:g.100613949A>G	GRCh37
NC_000009.10:g.99653770A>G	NCBI36
NG_011979.1:g.3413A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1209T>C
XR_930159.1:n.218+1209T>C
XR_930160.1:n.218+1209T>C
XR_930161.1:n.218+1209T>C
NR_147055.1:n.165+1249T>C