Canonical Allele Identifier: CA869019692

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1475031278
• gnomAD v3: 9-97852868-A-G
• gnomAD v4: 9-97852868-A-G
• MyVariant Identifiers: chr9:g.100615150A>G (hg19) ; chr9:g.97852868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852868A>G , CM000671.2:g.97852868A>G	GRCh38
NC_000009.11:g.100615150A>G , CM000671.1:g.100615150A>G	GRCh37
NC_000009.10:g.99654971A>G	NCBI36
NG_011979.1:g.4614A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+8T>C
XR_930159.1:n.218+8T>C
XR_930160.1:n.218+8T>C
XR_930161.1:n.218+8T>C
NR_147055.1:n.165+48T>C