Canonical Allele Identifier: CA1127207856
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830588923
gnomAD v3: 9-97851753-G-T
gnomAD v4: 9-97851753-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851753G>T , CM000671.2:g.97851753G>T GRCh38
NC_000009.11:g.100614035G>T , CM000671.1:g.100614035G>T GRCh37
NC_000009.10:g.99653856G>T NCBI36
NG_011979.1:g.3499G>T

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+1123C>A
XR_930159.1:n.218+1123C>A
XR_930160.1:n.218+1123C>A
XR_930161.1:n.218+1123C>A
NR_147055.1:n.165+1163C>A
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