Canonical Allele Identifier: CA197053092

Gene: PTCSC2

Linked Data

• dbSNP Id: rs111482243
• gnomAD v2: 9-100556058-T-C
• gnomAD v3: 9-97793776-T-C
• gnomAD v4: 9-97793776-T-C
• MyVariant Identifiers: chr9:g.100556058T>C (hg19) ; chr9:g.97793776T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793776T>C , CM000671.2:g.97793776T>C	GRCh38
NC_000009.11:g.100556058T>C , CM000671.1:g.100556058T>C	GRCh37
NC_000009.10:g.99595879T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+16119A>G
XR_930162.1:n.6461T>C
NR_147055.1:n.777+10475A>G