Canonical Allele Identifier: CA869004632

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1219220468
• gnomAD v3: 9-97793933-T-C
• gnomAD v4: 9-97793933-T-C
• MyVariant Identifiers: chr9:g.100556215T>C (hg19) ; chr9:g.97793933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793933T>C , CM000671.2:g.97793933T>C	GRCh38
NC_000009.11:g.100556215T>C , CM000671.1:g.100556215T>C	GRCh37
NC_000009.10:g.99596036T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+15962A>G
NR_147055.1:n.777+10318A>G