Canonical Allele Identifier: CA197059109

Gene: PTCSC2

Linked Data

• dbSNP Id: rs989237502
• gnomAD v2: 9-100614602-C-T
• gnomAD v3: 9-97852320-C-T
• gnomAD v4: 9-97852320-C-T
• MyVariant Identifiers: chr9:g.100614602C>T (hg19) ; chr9:g.97852320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852320C>T , CM000671.2:g.97852320C>T	GRCh38
NC_000009.11:g.100614602C>T , CM000671.1:g.100614602C>T	GRCh37
NC_000009.10:g.99654423C>T	NCBI36
NG_011979.1:g.4066C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+556G>A
XR_930159.1:n.218+556G>A
XR_930160.1:n.218+556G>A
XR_930161.1:n.218+556G>A
NR_147055.1:n.165+596G>A