Canonical Allele Identifier: CA1127208608
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830594257
gnomAD v3: 9-97851947-C-CCCA
gnomAD v4: 9-97851947-C-CCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851949_97851950insACC , CM000671.2:g.97851949_97851950insACC GRCh38
NC_000009.11:g.100614231_100614232insACC , CM000671.1:g.100614231_100614232insACC GRCh37
NC_000009.10:g.99654052_99654053insACC NCBI36
NG_011979.1:g.3695_3696insACC

Transcript Alleles

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