Canonical Allele Identifier: CA589532980
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1163017168
gnomAD v2: 9-100614229-C-CCT
gnomAD v3: 9-97851947-C-CCT
gnomAD v4: 9-97851947-C-CCT
MyVariant Identifiers: chr9:g.100614229_100614230insCT (hg19) chr9:g.97851947_97851948insCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851948_97851949insTC , CM000671.2:g.97851948_97851949insTC GRCh38
NC_000009.11:g.100614230_100614231insTC , CM000671.1:g.100614230_100614231insTC GRCh37
NC_000009.10:g.99654051_99654052insTC NCBI36
NG_011979.1:g.3694_3695insTC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+928_218+929insAG
XR_930159.1:n.218+928_218+929insAG
XR_930160.1:n.218+928_218+929insAG
XR_930161.1:n.218+928_218+929insAG
NR_147055.1:n.165+968_165+969insAG
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