Canonical Allele Identifier: CA197053095

Gene: PTCSC2

Linked Data

• dbSNP Id: rs755865231
• gnomAD v2: 9-100556152-C-T
• gnomAD v3: 9-97793870-C-T
• gnomAD v4: 9-97793870-C-T
• MyVariant Identifiers: chr9:g.100556152C>T (hg19) ; chr9:g.97793870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793870C>T , CM000671.2:g.97793870C>T	GRCh38
NC_000009.11:g.100556152C>T , CM000671.1:g.100556152C>T	GRCh37
NC_000009.10:g.99595973C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+16025G>A
XR_930162.1:n.6555C>T
NR_147055.1:n.777+10381G>A