Canonical Allele Identifier: CA589532796

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1297118952
• gnomAD v2: 9-100614059-C-T
• gnomAD v3: 9-97851777-C-T
• gnomAD v4: 9-97851777-C-T
• MyVariant Identifiers: chr9:g.100614059C>T (hg19) ; chr9:g.97851777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851777C>T , CM000671.2:g.97851777C>T	GRCh38
NC_000009.11:g.100614059C>T , CM000671.1:g.100614059C>T	GRCh37
NC_000009.10:g.99653880C>T	NCBI36
NG_011979.1:g.3523C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1099G>A
XR_930159.1:n.218+1099G>A
XR_930160.1:n.218+1099G>A
XR_930161.1:n.218+1099G>A
NR_147055.1:n.165+1139G>A