Canonical Allele Identifier: CA1127209087

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1830605981
• gnomAD v3: 9-97852788-C-T
• gnomAD v4: 9-97852788-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852788C>T , CM000671.2:g.97852788C>T	GRCh38
NC_000009.11:g.100615070C>T , CM000671.1:g.100615070C>T	GRCh37
NC_000009.10:g.99654891C>T	NCBI36
NG_011979.1:g.4534C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+88G>A
XR_930159.1:n.218+88G>A
XR_930160.1:n.218+88G>A
XR_930161.1:n.218+88G>A
NR_147055.1:n.165+128G>A