Canonical Allele Identifier: CA589533030

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1007187749
• gnomAD v2: 9-100614483-A-T
• MyVariant Identifiers: chr9:g.100614483A>T (hg19) ; chr9:g.97852201A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852201A>T , CM000671.2:g.97852201A>T	GRCh38
NC_000009.11:g.100614483A>T , CM000671.1:g.100614483A>T	GRCh37
NC_000009.10:g.99654304A>T	NCBI36
NG_011979.1:g.3947A>T

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+675T>A
XR_930159.1:n.218+675T>A
XR_930160.1:n.218+675T>A
XR_930161.1:n.218+675T>A
NR_147055.1:n.165+715T>A