Canonical Allele Identifier: CA197059045

Gene: PTCSC2

Linked Data

• dbSNP Id: rs917750561
• gnomAD v2: 9-100614204-A-C
• gnomAD v3: 9-97851922-A-C
• gnomAD v4: 9-97851922-A-C
• MyVariant Identifiers: chr9:g.100614204A>C (hg19) ; chr9:g.97851922A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851922A>C , CM000671.2:g.97851922A>C	GRCh38
NC_000009.11:g.100614204A>C , CM000671.1:g.100614204A>C	GRCh37
NC_000009.10:g.99654025A>C	NCBI36
NG_011979.1:g.3668A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+954T>G
XR_930159.1:n.218+954T>G
XR_930160.1:n.218+954T>G
XR_930161.1:n.218+954T>G
NR_147055.1:n.165+994T>G