Canonical Allele Identifier: CA869019549

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1489308080
• gnomAD v3: 9-97852617-T-C
• gnomAD v4: 9-97852617-T-C
• MyVariant Identifiers: chr9:g.100614899T>C (hg19) ; chr9:g.97852617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852617T>C , CM000671.2:g.97852617T>C	GRCh38
NC_000009.11:g.100614899T>C , CM000671.1:g.100614899T>C	GRCh37
NC_000009.10:g.99654720T>C	NCBI36
NG_011979.1:g.4363T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+259A>G
XR_930159.1:n.218+259A>G
XR_930160.1:n.218+259A>G
XR_930161.1:n.218+259A>G
NR_147055.1:n.165+299A>G