Canonical Allele Identifier: CA589532802

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1443927199
• gnomAD v2: 9-100614156-C-G
• gnomAD v3: 9-97851874-C-G
• gnomAD v4: 9-97851874-C-G
• MyVariant Identifiers: chr9:g.100614156C>G (hg19) ; chr9:g.97851874C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851874C>G , CM000671.2:g.97851874C>G	GRCh38
NC_000009.11:g.100614156C>G , CM000671.1:g.100614156C>G	GRCh37
NC_000009.10:g.99653977C>G	NCBI36
NG_011979.1:g.3620C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1002G>C
XR_930159.1:n.218+1002G>C
XR_930160.1:n.218+1002G>C
XR_930161.1:n.218+1002G>C
NR_147055.1:n.165+1042G>C